共 53 条
[1]
Al-Baradie RS, 2014, NEUROSCIENCES, V19, P312
[2]
De novo mutations in epileptic encephalopathies
[J].
Allen, Andrew S.
;
Berkovic, Samuel F.
;
Cossette, Patrick
;
Delanty, Norman
;
Dlugos, Dennis
;
Eichler, Evan E.
;
Epstein, Michael P.
;
Glauser, Tracy
;
Goldstein, David B.
;
Han, Yujun
;
Heinzen, Erin L.
;
Hitomi, Yuki
;
Howell, Katherine B.
;
Johnson, Michael R.
;
Kuzniecky, Ruben
;
Lowenstein, Daniel H.
;
Lu, Yi-Fan
;
Madou, Maura R. Z.
;
Marson, Anthony G.
;
Mefford, Heather C.
;
Nieh, Sahar Esmaeeli
;
O'Brien, Terence J.
;
Ottman, Ruth
;
Petrovski, Slave
;
Poduri, Annapurna
;
Ruzzo, Elizabeth K.
;
Scheffer, Ingrid E.
;
Sherr, Elliott H.
;
Yuskaitis, Christopher J.
;
Abou-Khalil, Bassel
;
Alldredge, Brian K.
;
Bautista, Jocelyn F.
;
Berkovic, Samuel F.
;
Boro, Alex
;
Cascino, Gregory D.
;
Consalvo, Damian
;
Crumrine, Patricia
;
Devinsky, Orrin
;
Dlugos, Dennis
;
Epstein, Michael P.
;
Fiol, Miguel
;
Fountain, Nathan B.
;
French, Jacqueline
;
Friedman, Daniel
;
Geller, Eric B.
;
Glauser, Tracy
;
Glynn, Simon
;
Haut, Sheryl R.
;
Hayward, Jean
;
Helmers, Sandra L.
.
NATURE,
2013, 501 (7466)
:217-+

Allen, Andrew S.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA
Duke Univ, Med Ctr, Ctr Human Genome Variat, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Berkovic, Samuel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne Austin Hlth, Dept Med, Epilepsy Res Ctr, Heidelberg, Vic 3084, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Cossette, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, CHUM Hop Notre Dame Montre, Montreal, PQ H2L 4M1, Canada
CHUM Res Ctr, Montreal, PQ H2L 4M1, Canada Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Delanty, Norman
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Coll Surg, Dublin 9, Ireland
Beaumont Hosp, Dept Neurol, Dublin 9, Ireland Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Dlugos, Dennis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Dept Neurol & Pediat, Philadelphia, PA 19104 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Eichler, Evan E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Dept Gen Sci, Seattle, WA 98195 USA
Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Epstein, Michael P.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Glauser, Tracy
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH 45229 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Goldstein, David B.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Han, Yujun
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Heinzen, Erin L.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Hitomi, Yuki
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Howell, Katherine B.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp Melbourne, Dept Neurol, Parkville, Vic 3052, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Johnson, Michael R.
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Clin Translat Div Brain Sci, London SW7 2AZ, England Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Kuzniecky, Ruben
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Sch Med, Dept Neurol, Comprehens Epilepsy Ctr, New York, NY 10016 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Lowenstein, Daniel H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Lu, Yi-Fan
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Madou, Maura R. Z.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Marson, Anthony G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Liverpool, Ctr Clin Sci, Dept Mol & Clin Pharmacol, Liverpool L9 7LJ, Merseyside, England Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Mefford, Heather C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98115 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Nieh, Sahar Esmaeeli
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, San Francisco, CA 94143 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

O'Brien, Terence J.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Melbourne Hosp, Dept Med, Parkville, Vic 3146, Australia
Royal Melbourne Hosp, Dept Neurol, Parkville, Vic 3146, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Ottman, Ruth
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Epidemiol, New York, NY 10027 USA
Columbia Univ, Dept Neurol, New York, NY 10027 USA
Columbia Univ, GH Sergievsky Ctr, New York, NY 10027 USA
New York State Psychiat Inst & Hosp, Div Epidemiol, New York, NY 10032 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Petrovski, Slave
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne Austin Hlth, Dept Med, Epilepsy Res Ctr, Heidelberg, Vic 3084, Australia
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA
Royal Melbourne Hosp, Dept Med, Parkville, Vic 3146, Australia
Royal Melbourne Hosp, Dept Neurol, Parkville, Vic 3146, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Poduri, Annapurna
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Dept Neurol, Div Epilepsy & Clin Neurophysiol, Boston, MA 02115 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Ruzzo, Elizabeth K.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Scheffer, Ingrid E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne Austin Hlth, Dept Med, Epilepsy Res Ctr, Heidelberg, Vic 3084, Australia
Univ Melbourne, Florey Inst, Parkville, Vic 3052, Australia
Univ Melbourne, Dept Pediat, Royal Childrens Hosp, Parkville, Vic 3052, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Sherr, Elliott H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Pediat & Inst Human Genet, Dept Neurol, San Francisco, CA 94158 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Yuskaitis, Christopher J.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Abou-Khalil, Bassel
论文数: 0 引用数: 0
h-index: 0
机构:
Vanderbilt Univ, Med Ctr, Dept Neurol, Nashville, TN 37232 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Alldredge, Brian K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Sch Med, UCSF Sch Pharm, Dept Clin Pharm,Dept Neurol, San Francisco, CA 94143 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Bautista, Jocelyn F.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin Neurol Inst, Cleveland Clin Lerner Coll Med & Epilepsy Ctr, Dept Neurol, Cleveland, OH 44195 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Berkovic, Samuel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne Austin Hlth, Dept Med, Epilepsy Res Ctr, Heidelberg, Vic 3084, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Boro, Alex
论文数: 0 引用数: 0
h-index: 0
机构:
Albert Einstein Coll Med, Montefiore Med Ctr, Dept Neurol, Bronx, NY 10467 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Cascino, Gregory D.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Div Epilepsy, Rochester, MN 55905 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Consalvo, Damian
论文数: 0 引用数: 0
h-index: 0
机构:
Ramos Meji Hosp, Div Neurol, Epilepsy Ctr, RA-1221 Buenos Aires, DF, Argentina Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Crumrine, Patricia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pittsburgh, UPMC, Med Epilepsy Program & EEG & Child Neurol, Childrens Hosp Pittsburgh,Sch Med, Pittsburgh, PA 15224 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Devinsky, Orrin
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Sch Med, St Barnabas Epilepsy Ctr, New York, NY 10016 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Dlugos, Dennis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Dept Neurol & Pediat, Philadelphia, PA 19104 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Epstein, Michael P.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Fiol, Miguel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Minnesota, Sch Med, Epilepsy Care Ctr, Dept Neurol, Minneapolis, MN 55414 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Fountain, Nathan B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Virginia, FE Dreifuss Comprehens Epilepsy Program, Charlottesville, VA 22908 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

French, Jacqueline
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Sch Med, Dept Neurol, Comprehens Epilepsy Ctr, New York, NY 10016 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Friedman, Daniel
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Sch Med, Dept Neurol, Comprehens Epilepsy Ctr, New York, NY 10016 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Geller, Eric B.
论文数: 0 引用数: 0
h-index: 0
机构:
St Barnabas Hosp, Div Neurol, Livingston, NJ 07039 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Glauser, Tracy
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH 45229 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Glynn, Simon
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan Hlth Syst, Dept Neurol, Comprehens Epilepsy Program, Ann Arbor, MI 48109 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Haut, Sheryl R.
论文数: 0 引用数: 0
h-index: 0
机构:
Montefiore Med Ctr, Comprehens Epilepsy Ctr, Bronx, NY 10467 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Hayward, Jean
论文数: 0 引用数: 0
h-index: 0
机构:
Kaiser Permanente Grp, Oakland, CA 94618 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Helmers, Sandra L.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Atlanta, GA 30322 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA
[3]
Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions
[J].
Amstutz, Ursula
;
Shear, Neil H.
;
Rieder, Michael J.
;
Hwang, Soomi
;
Fung, Vincent
;
Nakamura, Hidefumi
;
Connolly, Mary B.
;
Ito, Shinya
;
Carleton, Bruce C.
.
EPILEPSIA,
2014, 55 (04)
:496-506

Amstutz, Ursula
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Pediat, Div Translat Therapeut, Vancouver, BC V6T 1W5, Canada
British Columbia Childrens Hosp, Pharmaceut Outcomes Programme, Vancouver, BC V6H 3V4, Canada
Child & Family Res Inst, Vancouver, BC V5Z 4H4, Canada
Univ Bern, Dept Clin Chem, Bern, Switzerland
Inselspital Univ Hosp, Bern, Switzerland Univ British Columbia, Dept Pediat, Div Translat Therapeut, Vancouver, BC V6T 1W5, Canada

Shear, Neil H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Sunnybrook Hlth Sci Ctr, Dept Med, Toronto, ON, Canada Univ British Columbia, Dept Pediat, Div Translat Therapeut, Vancouver, BC V6T 1W5, Canada

Rieder, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Schulich Sch Med & Dent, Dept Med, London, ON, Canada
Univ Western Ontario, Schulich Sch Med & Dent, Dept Physiol, London, ON, Canada
Univ Western Ontario, Schulich Sch Med & Dent, Dept Pharmacol, London, ON, Canada
Univ Western Ontario, Dept Pediat, Schulich Sch Med & Dent, London, ON N6A 3K7, Canada Univ British Columbia, Dept Pediat, Div Translat Therapeut, Vancouver, BC V6T 1W5, Canada

Hwang, Soomi
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Fac Pharmaceut Sci, Vancouver, BC, Canada Univ British Columbia, Dept Pediat, Div Translat Therapeut, Vancouver, BC V6T 1W5, Canada

Fung, Vincent
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Fac Pharmaceut Sci, Vancouver, BC, Canada
Prohlth Clin Res Ctr, Vancouver, BC, Canada
Univ British Columbia, Fac Med, Dept Family Med, Vancouver, BC, Canada
Univ British Columbia, Fac Med, Dept Pathol & Lab Med, Vancouver, BC, Canada Univ British Columbia, Dept Pediat, Div Translat Therapeut, Vancouver, BC V6T 1W5, Canada

Nakamura, Hidefumi
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Child Hlth & Dev, Div Clin Trials, Clin Res Ctr, Tokyo, Japan Univ British Columbia, Dept Pediat, Div Translat Therapeut, Vancouver, BC V6T 1W5, Canada

Connolly, Mary B.
论文数: 0 引用数: 0
h-index: 0
机构:
Child & Family Res Inst, Vancouver, BC V5Z 4H4, Canada
British Columbia Childrens Hosp, Div Neurol, Dept Pediat, Vancouver, BC V6H 3V4, Canada
Univ British Columbia, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Dept Pediat, Div Translat Therapeut, Vancouver, BC V6T 1W5, Canada

Ito, Shinya
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin Pharmacol & Toxicol, Toronto, ON M5G 1X8, Canada Univ British Columbia, Dept Pediat, Div Translat Therapeut, Vancouver, BC V6T 1W5, Canada

Carleton, Bruce C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Pediat, Div Translat Therapeut, Vancouver, BC V6T 1W5, Canada
British Columbia Childrens Hosp, Pharmaceut Outcomes Programme, Vancouver, BC V6H 3V4, Canada
Child & Family Res Inst, Vancouver, BC V5Z 4H4, Canada Univ British Columbia, Dept Pediat, Div Translat Therapeut, Vancouver, BC V6T 1W5, Canada
[4]
[Anonymous], EUR J HUM GENET
[5]
[Anonymous], 2013, COCHRANE DATABASE SY
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[Anonymous], GENET MED
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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
[J].
Appenzeller, Silke
;
Balling, Rudi
;
Barisic, Nina
;
Baulac, Stephanie
;
Caglayan, Hande
;
Craiu, Dana
;
De Jonghe, Peter
;
Depienne, Christel
;
Dimova, Petia
;
Djemie, Tania
;
Gormley, Padhraig
;
Guerrini, Renzo
;
Helbig, Ingo
;
Hjalgrim, Helle
;
Hoffman-Zacharska, Dorota
;
Jaehn, Johanna
;
Klein, Karl Martin
;
Koeleman, Bobby
;
Komarek, Vladimir
;
Krause, Roland
;
Kuhlenbaeumer, Gregor
;
Leguern, Eric
;
Lehesjoki, Anna-Elina
;
Lemke, Johannes R.
;
Lerche, Holger
;
Linnankivi, Tarja
;
Marini, Carla
;
May, Patrick
;
Moller, Rikke S.
;
Muhle, Hiltrud
;
Pal, Deb
;
Palotie, Aarno
;
Pendziwiat, Manuela
;
Robbiano, Angela
;
Roelens, Filip
;
Rosenow, Felix
;
Selmer, Kaja
;
Serratosa, Jose M.
;
Sisodiya, Sanjay
;
Stephani, Ulrich
;
Sterbova, Katalin
;
Striano, Pasquale
;
Suls, Arvid
;
Talvik, Tiina
;
von Spiczak, Sarah
;
Weber, Yvonne
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Weckhuysen, Sarah
;
Zara, Federico
;
Abou-Khalil, Bassel
;
Alldredge, Brian K.
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AMERICAN JOURNAL OF HUMAN GENETICS,
2014, 95 (04)
:360-370

Appenzeller, Silke
论文数: 0 引用数: 0
h-index: 0

Balling, Rudi
论文数: 0 引用数: 0
h-index: 0

Barisic, Nina
论文数: 0 引用数: 0
h-index: 0

Baulac, Stephanie
论文数: 0 引用数: 0
h-index: 0

Caglayan, Hande
论文数: 0 引用数: 0
h-index: 0

Craiu, Dana
论文数: 0 引用数: 0
h-index: 0

De Jonghe, Peter
论文数: 0 引用数: 0
h-index: 0

Depienne, Christel
论文数: 0 引用数: 0
h-index: 0

Dimova, Petia
论文数: 0 引用数: 0
h-index: 0

Djemie, Tania
论文数: 0 引用数: 0
h-index: 0

Gormley, Padhraig
论文数: 0 引用数: 0
h-index: 0

Guerrini, Renzo
论文数: 0 引用数: 0
h-index: 0

Helbig, Ingo
论文数: 0 引用数: 0
h-index: 0

Hjalgrim, Helle
论文数: 0 引用数: 0
h-index: 0

Hoffman-Zacharska, Dorota
论文数: 0 引用数: 0
h-index: 0

Jaehn, Johanna
论文数: 0 引用数: 0
h-index: 0

Klein, Karl Martin
论文数: 0 引用数: 0
h-index: 0

Koeleman, Bobby
论文数: 0 引用数: 0
h-index: 0

Komarek, Vladimir
论文数: 0 引用数: 0
h-index: 0

Krause, Roland
论文数: 0 引用数: 0
h-index: 0

Kuhlenbaeumer, Gregor
论文数: 0 引用数: 0
h-index: 0

Leguern, Eric
论文数: 0 引用数: 0
h-index: 0

Lehesjoki, Anna-Elina
论文数: 0 引用数: 0
h-index: 0

Lemke, Johannes R.
论文数: 0 引用数: 0
h-index: 0

Lerche, Holger
论文数: 0 引用数: 0
h-index: 0

Linnankivi, Tarja
论文数: 0 引用数: 0
h-index: 0

Marini, Carla
论文数: 0 引用数: 0
h-index: 0

May, Patrick
论文数: 0 引用数: 0
h-index: 0

Moller, Rikke S.
论文数: 0 引用数: 0
h-index: 0

Muhle, Hiltrud
论文数: 0 引用数: 0
h-index: 0

Pal, Deb
论文数: 0 引用数: 0
h-index: 0

Palotie, Aarno
论文数: 0 引用数: 0
h-index: 0

Pendziwiat, Manuela
论文数: 0 引用数: 0
h-index: 0

Robbiano, Angela
论文数: 0 引用数: 0
h-index: 0

Roelens, Filip
论文数: 0 引用数: 0
h-index: 0

Rosenow, Felix
论文数: 0 引用数: 0
h-index: 0

Selmer, Kaja
论文数: 0 引用数: 0
h-index: 0

Serratosa, Jose M.
论文数: 0 引用数: 0
h-index: 0

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SCIENCE,
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Bar-Peled, Liron
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h-index: 0
机构:
Whitehead Inst Biomed Res, Cambridge, MA 02142 USA
MIT, Dept Biol, Cambridge, MA 02142 USA
Koch Inst Integrat Canc Res, Cambridge, MA 02139 USA Whitehead Inst Biomed Res, Cambridge, MA 02142 USA

Chantranupong, Lynne
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h-index: 0
机构:
Whitehead Inst Biomed Res, Cambridge, MA 02142 USA
MIT, Dept Biol, Cambridge, MA 02142 USA
Koch Inst Integrat Canc Res, Cambridge, MA 02139 USA Whitehead Inst Biomed Res, Cambridge, MA 02142 USA

Cherniack, Andrew D.
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h-index: 0
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Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA Whitehead Inst Biomed Res, Cambridge, MA 02142 USA

Chen, Walter W.
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h-index: 0
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Whitehead Inst Biomed Res, Cambridge, MA 02142 USA
MIT, Dept Biol, Cambridge, MA 02142 USA
Koch Inst Integrat Canc Res, Cambridge, MA 02139 USA Whitehead Inst Biomed Res, Cambridge, MA 02142 USA

Ottina, Kathleen A.
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h-index: 0
机构:
Whitehead Inst Biomed Res, Cambridge, MA 02142 USA
MIT, Dept Biol, Cambridge, MA 02142 USA
Koch Inst Integrat Canc Res, Cambridge, MA 02139 USA Whitehead Inst Biomed Res, Cambridge, MA 02142 USA

Grabiner, Brian C.
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h-index: 0
机构:
Whitehead Inst Biomed Res, Cambridge, MA 02142 USA
MIT, Dept Biol, Cambridge, MA 02142 USA
Koch Inst Integrat Canc Res, Cambridge, MA 02139 USA Whitehead Inst Biomed Res, Cambridge, MA 02142 USA

Spear, Eric D.
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h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Cell Biol, Baltimore, MD 21205 USA Whitehead Inst Biomed Res, Cambridge, MA 02142 USA

Carter, Scott L.
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h-index: 0
机构:
Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA Whitehead Inst Biomed Res, Cambridge, MA 02142 USA

Meyerson, Matthew
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h-index: 0
机构:
Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA
Harvard Univ, Sch Med, Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02215 USA
Harvard Univ, Sch Med, Dept Pathol, Boston, MA 02115 USA Whitehead Inst Biomed Res, Cambridge, MA 02142 USA

Sabatini, David M.
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h-index: 0
机构:
Whitehead Inst Biomed Res, Cambridge, MA 02142 USA
MIT, Dept Biol, Cambridge, MA 02142 USA
Koch Inst Integrat Canc Res, Cambridge, MA 02139 USA
MIT, Howard Hughes Med Inst, Dept Biol, Cambridge, MA 02139 USA
Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA Whitehead Inst Biomed Res, Cambridge, MA 02142 USA
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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
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Barcia, Giulia
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Gazula, Valeswara-Rao
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Chen, Haijun
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Kronengold, Jack
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Abhyankar, Avinash
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Cilio, Roberta
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Nitschke, Patrick
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Kaminska, Anna
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Boddaert, Nathalie
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Casanova, Jean-Laurent
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Desguerre, Isabelle
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NATURE GENETICS,
2012, 44 (11)
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机构:

Fleming, Matthew R.
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h-index: 0
机构:
Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA
Yale Univ, Sch Med, Dept Cellular & Mol Physiol, New Haven, CT 06510 USA Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Deligniere, Aline
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h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Gazula, Valeswara-Rao
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h-index: 0
机构:
Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Brown, Maile R.
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h-index: 0
机构:
Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Langouet, Maeva
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h-index: 0
机构:
Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781,Inst Imagine, Paris, France Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Chen, Haijun
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h-index: 0
机构:
SUNY Albany, Dept Biol Sci, Albany, NY 12222 USA Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Kronengold, Jack
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

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h-index:
机构:

Cilio, Roberta
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h-index: 0
机构:
Bambino Gesu Pediat Hosp, Div Neurol, Rome, Italy Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Nitschke, Patrick
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h-index: 0
机构:
Hop Necker Enfants Malad, Dept Biostat, Paris, France Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Kaminska, Anna
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h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Clin Electrophysiol Unit, Paris, France Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Boddaert, Nathalie
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h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Dept Paediat Radiol, Paris, France Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Casanova, Jean-Laurent
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h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Desguerre, Isabelle
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h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Munnich, Arnold
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h-index: 0
机构:
Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781,Inst Imagine, Paris, France Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Dulac, Olivier
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h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France
Univ Paris 05, Hop Necker Enfants Malad, INSERM, U663, Paris, France Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

Kaczmarek, Leonard K.
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h-index: 0
机构:
Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA
Yale Univ, Sch Med, Dept Cellular & Mol Physiol, New Haven, CT 06510 USA Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France

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h-index:
机构:

Nabbout, Rima
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h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France
Univ Paris 05, Hop Necker Enfants Malad, INSERM, U663, Paris, France Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France
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Basel-Vanagaite, Lina
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Smirin-Yosef, Pola
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Vila-Pueyo, Marta
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Kornreich, Liora
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Thiele, Holger
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Bode, Harald
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Lagovsky, Irina
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Dahary, Dvir
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Haviv, Ami
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Hubshman, Monika Weisz
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Pasmanik-Chor, Metsada
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Kubisch, Christian
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Macaya, Alfons
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Borck, Guntram
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AMERICAN JOURNAL OF HUMAN GENETICS,
2013, 93 (03)
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Basel-Vanagaite, Lina
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h-index: 0
机构:
Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel
Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel
Rabin Med Ctr, Felsenstein Med Res Ctr, IL-49100 Petah Tiqwa, Israel
Schneider Childrens Med Ctr Israel, Pediatr Genet Unit, IL-49202 Petah Tiqwa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Hershkovitz, Tova
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h-index: 0
机构:
Dept Pediat B, IL-31096 Haifa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Heyman, Eli
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h-index: 0
机构:
Assaf Harofeh Med Ctr, Dept Pediat Neurol, IL-70300 Zerifin, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Raspall-Chaure, Miguel
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h-index: 0
机构:
Univ Autonoma Barcelona, Vall Hebron Res Inst, Grup Recerca Neurol Pediatr, Barcelona 08035, Spain Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Kakar, Naseebullah
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h-index: 0
机构:
Univ Ulm, Inst Human Genet, D-89081 Ulm, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Smirin-Yosef, Pola
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Vila-Pueyo, Marta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Barcelona, Vall Hebron Res Inst, Grup Recerca Neurol Pediatr, Barcelona 08035, Spain Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Kornreich, Liora
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h-index: 0
机构:
Schneider Childrens Med Ctr Israel, Dept Imaging, IL-49202 Petah Tiqwa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

论文数: 引用数:
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机构:

Bode, Harald
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ulm, Childrens Hosp, Div Pediat Neurol, D-89075 Ulm, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Lagovsky, Irina
论文数: 0 引用数: 0
h-index: 0
机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Dahary, Dvir
论文数: 0 引用数: 0
h-index: 0
机构:
Toldot Genet Ltd, IL-45217 Hod Hasharon, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Haviv, Ami
论文数: 0 引用数: 0
h-index: 0
机构:
Toldot Genet Ltd, IL-45217 Hod Hasharon, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Hubshman, Monika Weisz
论文数: 0 引用数: 0
h-index: 0
机构:
Schneider Childrens Med Ctr Israel, Pediatr Genet Unit, IL-49202 Petah Tiqwa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Pasmanik-Chor, Metsada
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, George S Wise Fac Life Sci, Bioinformat Unit, IL-69978 Tel Aviv, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Nuernberg, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany
Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany
Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, D-50674 Cologne, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Gothelf, Doron
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel
Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Child Psychiat Unit, IL-52620 Tel Hashomer, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Kubisch, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ulm, Inst Human Genet, D-89081 Ulm, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Shohat, Mordechai
论文数: 0 引用数: 0
h-index: 0
机构:
Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel
Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel
Rabin Med Ctr, Felsenstein Med Res Ctr, IL-49100 Petah Tiqwa, Israel
Schneider Childrens Med Ctr Israel, Pediatr Genet Unit, IL-49202 Petah Tiqwa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Macaya, Alfons
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Barcelona, Vall Hebron Res Inst, Grup Recerca Neurol Pediatr, Barcelona 08035, Spain Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel

Borck, Guntram
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ulm, Inst Human Genet, D-89081 Ulm, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel