共 19 条
[1]
A method and server for predicting damaging missense mutations
[J].
Adzhubei, Ivan A.
;
Schmidt, Steffen
;
Peshkin, Leonid
;
Ramensky, Vasily E.
;
Gerasimova, Anna
;
Bork, Peer
;
Kondrashov, Alexey S.
;
Sunyaev, Shamil R.
.
NATURE METHODS,
2010, 7 (04)
:248-249

Adzhubei, Ivan A.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Schmidt, Steffen
论文数: 0 引用数: 0
h-index: 0
机构:
Max Planck Inst Dev Biol, Dept Biochem, Tubingen, Germany Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Peshkin, Leonid
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Dept Syst Biol, Boston, MA USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Ramensky, Vasily E.
论文数: 0 引用数: 0
h-index: 0
机构:
Russian Acad Sci, VA Engelhardt Mol Biol Inst, Moscow, Russia Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Gerasimova, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Inst Life Sci, Ann Arbor, MI USA
Univ Michigan, Dept Ecol & Evolutionary Biol, Ann Arbor, MI USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Bork, Peer
论文数: 0 引用数: 0
h-index: 0
机构:
European Mol Biol Lab, Heidelberg, Germany Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Kondrashov, Alexey S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Inst Life Sci, Ann Arbor, MI USA
Univ Michigan, Dept Ecol & Evolutionary Biol, Ann Arbor, MI USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Sunyaev, Shamil R.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA
[2]
Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay
[J].
Al-Sayed, Moeenaldeen D.
;
Al-Zaidan, Hamad
;
Albakheet, AlBandary
;
Hakami, Hana
;
Kenana, Rosan
;
Al-Yafee, Yusra
;
Al-Dosary, Mazhor
;
Qari, Alya
;
Al-Sheddi, Tarfa
;
Al-Muheiza, Muhammed
;
Al-Qubbaj, Wafa
;
Lakmache, Yamina
;
Al-Hindi, Hindi
;
Ghaziuddin, Muhammad
;
Colak, Dilek
;
Kaya, Namik
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2013, 93 (04)
:721-726

Al-Sayed, Moeenaldeen D.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Al-Zaidan, Hamad
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Albakheet, AlBandary
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Hakami, Hana
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Kenana, Rosan
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Al-Yafee, Yusra
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Al-Dosary, Mazhor
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Qari, Alya
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Al-Sheddi, Tarfa
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Al-Muheiza, Muhammed
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Al-Qubbaj, Wafa
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Pathol & Lab Med, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Lakmache, Yamina
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Mental Hlth, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Al-Hindi, Hindi
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Pathol & Lab Med, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Ghaziuddin, Muhammad
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Mental Hlth, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Colak, Dilek
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Biostat Epidemiol & Sci Comp, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

Kaya, Namik
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
King Faisal Specialist Hosp & Res Ctr, Dept Pathol & Lab Med, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia
[3]
A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis
[J].
Aoyagi, Kyota
;
Rossignol, Elsa
;
Hamdan, Fadi F.
;
Mulcahy, Ben
;
Xie, Lin
;
Nagamatsu, Shinya
;
Rouleau, Guy A.
;
Zhen, Mei
;
Michaud, Jacques L.
.
HUMAN MUTATION,
2015, 36 (08)
:753-757

Aoyagi, Kyota
论文数: 0 引用数: 0
h-index: 0
机构:
Kyorin Univ, Sch Med, Dept Biochem, Tokyo, Japan Kyorin Univ, Sch Med, Dept Biochem, Tokyo, Japan

Rossignol, Elsa
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada
Univ Montreal, Dept Neurosci, Montreal, PQ, Canada
Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada Kyorin Univ, Sch Med, Dept Biochem, Tokyo, Japan

Hamdan, Fadi F.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada Kyorin Univ, Sch Med, Dept Biochem, Tokyo, Japan

Mulcahy, Ben
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5S 1A8, Canada
Univ Toronto, Inst Med Sci, Dept Mol Genet, Toronto, ON M5S 1A8, Canada Kyorin Univ, Sch Med, Dept Biochem, Tokyo, Japan

Xie, Lin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5S 1A8, Canada
Univ Toronto, Inst Med Sci, Dept Mol Genet, Toronto, ON M5S 1A8, Canada Kyorin Univ, Sch Med, Dept Biochem, Tokyo, Japan

Nagamatsu, Shinya
论文数: 0 引用数: 0
h-index: 0
机构:
Kyorin Univ, Sch Med, Dept Biochem, Tokyo, Japan Kyorin Univ, Sch Med, Dept Biochem, Tokyo, Japan

Rouleau, Guy A.
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada Kyorin Univ, Sch Med, Dept Biochem, Tokyo, Japan

Zhen, Mei
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5S 1A8, Canada
Univ Toronto, Inst Med Sci, Dept Mol Genet, Toronto, ON M5S 1A8, Canada Kyorin Univ, Sch Med, Dept Biochem, Tokyo, Japan

Michaud, Jacques L.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada
Univ Montreal, Dept Neurosci, Montreal, PQ, Canada
Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada Kyorin Univ, Sch Med, Dept Biochem, Tokyo, Japan
[4]
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
[J].
Chong, Jessica X.
;
McMillin, Margaret J.
;
Shively, Kathryn M.
;
Beck, Anita E.
;
Marvin, Colby T.
;
Armenteros, Jose R.
;
Buckingham, Kati J.
;
Nkinsi, Naomi T.
;
Boyle, Evan A.
;
Berry, Margaret N.
;
Bocian, Maureen
;
Foulds, Nicola
;
Uzielli, Maria Luisa Giovannucci
;
Haldeman-Englert, Chad
;
Hennekam, Raoul C. M.
;
Kaplan, Paige
;
Kline, Antonie D.
;
Mercer, Catherine L.
;
Nowaczyk, Malgorzata J. M.
;
Wassink-Ruiter, Jolien S. Klein
;
McPherson, Elizabeth W.
;
Moreno, Regina A.
;
Scheuerle, Angela E.
;
Shashi, Vandana
;
Stevens, Cathy A.
;
Carey, John C.
;
Monteil, Arnaud
;
Lory, Philippe
;
Tabor, Holly K.
;
Smith, Joshua D.
;
Shendure, Jay
;
Nickerson, Deborah A.
;
Bamshad, Michael J.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2015, 96 (03)
:462-473

Chong, Jessica X.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

McMillin, Margaret J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Shively, Kathryn M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Beck, Anita E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Marvin, Colby T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Armenteros, Jose R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Buckingham, Kati J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Nkinsi, Naomi T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Boyle, Evan A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Berry, Margaret N.
论文数: 0 引用数: 0
h-index: 0
机构:
Wake Forest Sch Med, Dept Pediat, Med Genet Sect, Winston Salem, NC 27157 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Bocian, Maureen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Irvine, Dept Pediat, Div Genet & Genom Med, Orange, CA 92868 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Foulds, Nicola
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Southampton NHS Fdn Trust, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
Univ Southampton, Fac Med, Southampton SO16 5YA, Hants, England Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Uzielli, Maria Luisa Giovannucci
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florence, Dipartimento Sci, Genet & Mol Med, I-50139 Florence, Italy Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Haldeman-Englert, Chad
论文数: 0 引用数: 0
h-index: 0
机构:
Wake Forest Sch Med, Dept Pediat, Med Genet Sect, Winston Salem, NC 27157 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Hennekam, Raoul C. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1100 DD Amsterdam, Netherlands Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Kaplan, Paige
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Med Genet, Dept Pediat, Philadelphia, PA 19104 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Kline, Antonie D.
论文数: 0 引用数: 0
h-index: 0
机构:
Greater Baltimore Med Ctr, Harvey Inst Human Genet, Dept Pediat, Baltimore, MD 21204 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Mercer, Catherine L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Southampton NHS Fdn Trust, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
Univ Southampton, Fac Med, Southampton SO16 5YA, Hants, England Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Nowaczyk, Malgorzata J. M.
论文数: 0 引用数: 0
h-index: 0
机构:
McMaster Univ, Dept Pediat, Hamilton, ON L8S 4L8, Canada
McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON L8S 4L8, Canada Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Wassink-Ruiter, Jolien S. Klein
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands Univ Washington, Dept Pediat, Seattle, WA 98195 USA

McPherson, Elizabeth W.
论文数: 0 引用数: 0
h-index: 0
机构:
Marshfield Clin Fdn Med Res & Educ, Dept Med Genet, Marshfield, WI 54449 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Moreno, Regina A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ La Frontera, Fac Med, Dept Ciencias Basicas, Temuco 4811230, Chile Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Scheuerle, Angela E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas SW Med Ctr Dallas, Dept Pediat, Div Genet & Metab, Dallas, TX 75390 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Shashi, Vandana
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Div Med Genet, Dept Pediat, Durham, NC 27710 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Stevens, Cathy A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee, Coll Med, Dept Pediat, Chattanooga, TN 37403 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Carey, John C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pediat, Salt Lake City, UT 84108 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Monteil, Arnaud
论文数: 0 引用数: 0
h-index: 0
机构:
CNRS, UMR 5203, Inst Genom Fonct, LabEx Ion Channel Sci & Therapeut, F-34094 Montpellier, France
Univ Montpellier, Dept Physiol, F-34094 Montpellier, France
INSERM, Paris, France Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Lory, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
CNRS, UMR 5203, Inst Genom Fonct, LabEx Ion Channel Sci & Therapeut, F-34094 Montpellier, France
Univ Montpellier, Dept Physiol, F-34094 Montpellier, France
INSERM, Paris, France Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Tabor, Holly K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Seattle Childrens Res Inst, Treuman Katz Ctr Pediat Bioeth, Seattle, WA 98101 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Smith, Joshua D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Shendure, Jay
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Nickerson, Deborah A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Bamshad, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA
[5]
The sodium leak channel, NALCN, in health and disease
[J].
Cochet-Bissuel, Maud
;
Lory, Philippe
;
Monteil, Arnaud
.
FRONTIERS IN CELLULAR NEUROSCIENCE,
2014, 8

Cochet-Bissuel, Maud
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montpellier I, CNRS, Inst Genom Fonct, UMR 5203, Montpellier, France
Univ Montpellier 2, Montpellier, France
INSERM, U661, Montpellier, France
LabEx Ion Channel Sci & Therapeut, Montpellier, France Univ Montpellier I, CNRS, Inst Genom Fonct, UMR 5203, Montpellier, France

Lory, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montpellier I, CNRS, Inst Genom Fonct, UMR 5203, Montpellier, France
Univ Montpellier 2, Montpellier, France
INSERM, U661, Montpellier, France
LabEx Ion Channel Sci & Therapeut, Montpellier, France Univ Montpellier I, CNRS, Inst Genom Fonct, UMR 5203, Montpellier, France

Monteil, Arnaud
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montpellier I, CNRS, Inst Genom Fonct, UMR 5203, Montpellier, France
Univ Montpellier 2, Montpellier, France
INSERM, U661, Montpellier, France
LabEx Ion Channel Sci & Therapeut, Montpellier, France Univ Montpellier I, CNRS, Inst Genom Fonct, UMR 5203, Montpellier, France
[6]
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
[J].
Fukai, Ryoko
;
Hiraki, Yoko
;
Yofune, Hiroko
;
Tsurusaki, Yoshinori
;
Nakashima, Mitsuko
;
Saitsu, Hirotomo
;
Tanaka, Fumiaki
;
Miyake, Noriko
;
Matsumoto, Naomichi
.
JOURNAL OF HUMAN GENETICS,
2015, 60 (05)
:277-279

Fukai, Ryoko
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan
Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan

Hiraki, Yoko
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Municipal Ctr Child Hlth & Dev, Hiroshima, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan

Yofune, Hiroko
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima City Hokubu Ctr Childrens Treatment & G, Hiroshima, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan

Tsurusaki, Yoshinori
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan

Nakashima, Mitsuko
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan

论文数: 引用数:
h-index:
机构:

Tanaka, Fumiaki
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan

Miyake, Noriko
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan

Matsumoto, Naomichi
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan
[7]
Protein structure prediction on the Web: a case study using the Phyre server
[J].
Kelley, Lawrence A.
;
Sternberg, Michael J. E.
.
NATURE PROTOCOLS,
2009, 4 (03)
:363-371

Kelley, Lawrence A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Dept Life Sci, Struct Bioinformat Grp, Div Mol Biosci, London SW7 2AZ, England Univ London Imperial Coll Sci Technol & Med, Dept Life Sci, Struct Bioinformat Grp, Div Mol Biosci, London SW7 2AZ, England

Sternberg, Michael J. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Dept Life Sci, Struct Bioinformat Grp, Div Mol Biosci, London SW7 2AZ, England Univ London Imperial Coll Sci Technol & Med, Dept Life Sci, Struct Bioinformat Grp, Div Mol Biosci, London SW7 2AZ, England
[8]
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism
[J].
Koroglu, Cigdem
;
Seven, Mehmet
;
Tolun, Aslihan
.
JOURNAL OF MEDICAL GENETICS,
2013, 50 (08)
:515-520

Koroglu, Cigdem
论文数: 0 引用数: 0
h-index: 0
机构:
Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey

Seven, Mehmet
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Med Fac Cerrahpasa, Dept Med Genet, Istanbul, Turkey Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey

Tolun, Aslihan
论文数: 0 引用数: 0
h-index: 0
机构:
Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey
[9]
Ligand-induced structural changes in the cyclic nucleotide-modulated potassium channel MloK1
[J].
Kowal, Julia
;
Chami, Mohamed
;
Baumgartner, Paul
;
Arheit, Marcel
;
Chiu, Po-Lin
;
Rangl, Martina
;
Scheuring, Simon
;
Schroeder, Gunnar F.
;
Nimigean, Crina M.
;
Stahlberg, Henning
.
NATURE COMMUNICATIONS,
2014, 5

Kowal, Julia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland

论文数: 引用数:
h-index:
机构:

Baumgartner, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland

Arheit, Marcel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland

Chiu, Po-Lin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Davis, CBS, Davis, CA 95616 USA Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland

Rangl, Martina
论文数: 0 引用数: 0
h-index: 0
机构:
Aix Marseille Univ, INSERM, U1006, F-13009 Marseille, France Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland

Scheuring, Simon
论文数: 0 引用数: 0
h-index: 0
机构:
Aix Marseille Univ, INSERM, U1006, F-13009 Marseille, France Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland

Schroeder, Gunnar F.
论文数: 0 引用数: 0
h-index: 0
机构:
Forschungszentrum Julich, Inst Complex Syst, ICS Struct Biochem 6, D-52425 Julich, Germany
Univ Dusseldorf, Dept Phys, D-40225 Dusseldorf, Germany Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland

Nimigean, Crina M.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland

Stahlberg, Henning
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland
Weill Cornell Med Coll, Dept Anesthesiol, New York, NY 10065 USA
Weill Cornell Med Coll, Dept Physiol & Biophys, New York, NY 10065 USA
Weill Cornell Med Coll, Dept Biochem, New York, NY 10065 USA Univ Basel, Biozentrum, Ctr Cellular Imaging & NanoAnalyt, CH-4058 Basel, Switzerland
[10]
The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm
[J].
Lu, Boxun
;
Su, Yanhua
;
Das, Sudipto
;
Liu, Jin
;
Xia, Jingsheng
;
Ren, Dejian
.
CELL,
2007, 129 (02)
:371-383

Lu, Boxun
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Biol, Philadelphia, PA 19104 USA Univ Penn, Dept Biol, Philadelphia, PA 19104 USA

Su, Yanhua
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Biol, Philadelphia, PA 19104 USA Univ Penn, Dept Biol, Philadelphia, PA 19104 USA

Das, Sudipto
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Biol, Philadelphia, PA 19104 USA Univ Penn, Dept Biol, Philadelphia, PA 19104 USA

Liu, Jin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Biol, Philadelphia, PA 19104 USA Univ Penn, Dept Biol, Philadelphia, PA 19104 USA

Xia, Jingsheng
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Biol, Philadelphia, PA 19104 USA Univ Penn, Dept Biol, Philadelphia, PA 19104 USA

Ren, Dejian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Biol, Philadelphia, PA 19104 USA Univ Penn, Dept Biol, Philadelphia, PA 19104 USA