共 11 条
[1]
Alfadhel M., 2018, GENEREVIEWS
[2]
Alfadhel M, 2015, JIMD REP, V22, P11, DOI 10.1007/8904_2014_405
[3]
Asparagine synthetase: Function, structure, and role in disease
[J].
Lomelino, Carrie L.
;
Andring, Jacob T.
;
McKenna, Robert
;
Kilberg, Michael S.
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
2017, 292 (49)
:19952-19958

Lomelino, Carrie L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florida, Coll Med, Shands Canc Ctr, Dept Biochem & Mol Biol, Gainesville, FL 32610 USA Univ Florida, Coll Med, Shands Canc Ctr, Dept Biochem & Mol Biol, Gainesville, FL 32610 USA

Andring, Jacob T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florida, Coll Med, Shands Canc Ctr, Dept Biochem & Mol Biol, Gainesville, FL 32610 USA Univ Florida, Coll Med, Shands Canc Ctr, Dept Biochem & Mol Biol, Gainesville, FL 32610 USA

McKenna, Robert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florida, Coll Med, Shands Canc Ctr, Dept Biochem & Mol Biol, Gainesville, FL 32610 USA Univ Florida, Coll Med, Shands Canc Ctr, Dept Biochem & Mol Biol, Gainesville, FL 32610 USA

Kilberg, Michael S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florida, Coll Med, Shands Canc Ctr, Dept Biochem & Mol Biol, Gainesville, FL 32610 USA Univ Florida, Coll Med, Shands Canc Ctr, Dept Biochem & Mol Biol, Gainesville, FL 32610 USA
[4]
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine
[J].
Palmer, Elizabeth Emma
;
Hayner, Jaclyn
;
Sachdev, Rani
;
Cardamone, Michael
;
Kandula, Tejaswi
;
Morris, Paula
;
Dias, Kerith-Rae
;
Tao, Jiang
;
Miller, David
;
Zhu, Ying
;
Macintosh, Rebecca
;
Dinger, Marcel E.
;
Cowley, Mark J.
;
Buckley, Michael F.
;
Roscioli, Tony
;
Bye, Ann
;
Kilberg, Michael S.
;
Kirk, Edwin P.
.
MOLECULAR GENETICS AND METABOLISM,
2015, 116 (03)
:178-186

Palmer, Elizabeth Emma
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Randwick, NSW 2031, Australia
Univ New S Wales, Sydney, NSW 2052, Australia
Genet Learning Disabil GOLD Serv, Waratah, NSW 2298, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Hayner, Jaclyn
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florida, Coll Med, Dept Biochem & Mol Biol, Gainesville, FL 32608 USA Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Sachdev, Rani
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Randwick, NSW 2031, Australia
Univ New S Wales, Sydney, NSW 2052, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Cardamone, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Randwick, NSW 2031, Australia
Univ New S Wales, Sydney, NSW 2052, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Kandula, Tejaswi
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Randwick, NSW 2031, Australia
Univ New S Wales, Sydney, NSW 2052, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Morris, Paula
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW 2010, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Dias, Kerith-Rae
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW 2010, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Tao, Jiang
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW 2010, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Miller, David
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW 2010, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Zhu, Ying
论文数: 0 引用数: 0
h-index: 0
机构:
Genet Learning Disabil GOLD Serv, Waratah, NSW 2298, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Macintosh, Rebecca
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Randwick, NSW 2031, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Dinger, Marcel E.
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW 2010, Australia
Univ New S Wales, St Vincents Clin Sch, Sydney, NSW 2010, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Cowley, Mark J.
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW 2010, Australia
Univ New S Wales, St Vincents Clin Sch, Sydney, NSW 2010, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Buckley, Michael F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ New S Wales, Sydney, NSW 2052, Australia
Seals Mol Genet, Sydney, NSW 2031, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Roscioli, Tony
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Randwick, NSW 2031, Australia
Univ New S Wales, Sydney, NSW 2052, Australia
Seals Mol Genet, Sydney, NSW 2031, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Bye, Ann
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Randwick, NSW 2031, Australia
Univ New S Wales, Sydney, NSW 2052, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Kilberg, Michael S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florida, Coll Med, Dept Biochem & Mol Biol, Gainesville, FL 32608 USA Sydney Childrens Hosp, Randwick, NSW 2031, Australia

Kirk, Edwin P.
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Randwick, NSW 2031, Australia
Univ New S Wales, Sydney, NSW 2052, Australia
Seals Mol Genet, Sydney, NSW 2031, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia
[5]
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
[J].
Richards, Sue
;
Aziz, Nazneen
;
Bale, Sherri
;
Bick, David
;
Das, Soma
;
Gastier-Foster, Julie
;
Grody, Wayne W.
;
Hegde, Madhuri
;
Lyon, Elaine
;
Spector, Elaine
;
Voelkerding, Karl
;
Rehm, Heidi L.
.
GENETICS IN MEDICINE,
2015, 17 (05)
:405-424

Richards, Sue
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Aziz, Nazneen
论文数: 0 引用数: 0
h-index: 0
机构:
Coll Amer Pathologists, Chicago, IL USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Bale, Sherri
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Bick, David
论文数: 0 引用数: 0
h-index: 0
机构:
Med Coll Wisconsin, Dept Pediat, Genet Sect, Milwaukee, WI 53226 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Das, Soma
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Clin Mol Genet Lab, Dept Human Genet, Chicago, IL 60637 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Gastier-Foster, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Cytogenet Mol Genet Lab, Columbus, OH USA
Ohio State Univ, Coll Med, Dept Pathol, Columbus, OH 43210 USA
Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Grody, Wayne W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Hegde, Madhuri
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Emory Genet Lab, Dept Human Genet, Atlanta, GA 30322 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Lyon, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Spector, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, Anschutz Med Sch, Childrens Hosp Colorado, Dept Pediat,Mol Genet Lab, Denver, CO 80202 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Voelkerding, Karl
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Rehm, Heidi L.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Partners Lab Mol Med, Boston, MA 02115 USA
Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
[6]
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
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Ruzzo, Elizabeth K.
;
Capo-Chichi, Jose-Mario
;
Ben-Zeev, Bruria
;
Chitayat, David
;
Mao, Hanqian
;
Pappas, Andrea L.
;
Hitomi, Yuki
;
Lu, Yi-Fan
;
Yao, Xiaodi
;
Hamdan, Fadi F.
;
Pelak, Kimberly
;
Reznik-Wolf, Haike
;
Bar-Joseph, Fat
;
Oz-Levi, Danit
;
Lev, Dorit
;
Lerman-Sagie, Tally
;
Leshinsky-Silver, Esther
;
Anikster, Yair
;
Ben-Asher, Edna
;
Olender, Tsviya
;
Colleaux, Laurence
;
Decarie, Jean-Claude
;
Blaser, Susan
;
Banwell, Brenda
;
Joshi, Rasesh B.
;
He, Xiao-Ping
;
Patry, Lysanne
;
Silver, Rachel J.
;
Dobrzeniecka, Sylvia
;
Islam, Mohammad S.
;
Hasnat, Abul
;
Samuels, Mark E.
;
Aryal, Dipendra K.
;
Rodriguiz, Ramona M.
;
Jiang, Yong-hui
;
Wetsel, William C.
;
McNamara, James O.
;
Rouleau, Guy A.
;
Silver, Debra L.
;
Lancet, Doron
;
Pras, Elon
;
Mitchell, Grant A.
;
Michaud, Jacques L.
;
Goldstein, David B.
.
NEURON,
2013, 80 (02)
:429-441

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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Capo-Chichi, Jose-Mario
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Ben-Zeev, Bruria
论文数: 0 引用数: 0
h-index: 0
机构:
Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, IL-52621 Ramat Gan, Israel
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

论文数: 引用数:
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机构:

Mao, Hanqian
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Durham, NC 27708 USA
Duke Univ, Duke Inst Brain Sci, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Pappas, Andrea L.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Dept Neurobiol, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Yao, Xiaodi
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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Hamdan, Fadi F.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Pelak, Kimberly
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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Reznik-Wolf, Haike
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel
Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Ramat Gan, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Bar-Joseph, Fat
论文数: 0 引用数: 0
h-index: 0
机构:
Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, IL-52621 Ramat Gan, Israel
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel
Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Ramat Gan, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Oz-Levi, Danit
论文数: 0 引用数: 0
h-index: 0
机构:
Weizmann Inst Sci, Dept Mol Genet, IL-76100 Rehovot, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Lev, Dorit
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel
Wolfson Med Ctr, Inst Med Genet, IL-58100 Holon, Israel
Wolfson Med Ctr, Metab Neurogenet Clin, IL-58100 Holon, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Lerman-Sagie, Tally
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel
Wolfson Med Ctr, Metab Neurogenet Clin, IL-58100 Holon, Israel
Wolfson Med Ctr, Pediat Neurol Unit, IL-58100 Holon, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Leshinsky-Silver, Esther
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel
Wolfson Med Ctr, Metab Neurogenet Clin, IL-58100 Holon, Israel
Wolfson Med Ctr, Mol Genet Lab, IL-58100 Holon, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Anikster, Yair
论文数: 0 引用数: 0
h-index: 0
机构:
Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, IL-52621 Ramat Gan, Israel
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Ben-Asher, Edna
论文数: 0 引用数: 0
h-index: 0
机构:
Weizmann Inst Sci, Dept Mol Genet, IL-76100 Rehovot, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Olender, Tsviya
论文数: 0 引用数: 0
h-index: 0
机构:
Weizmann Inst Sci, Dept Mol Genet, IL-76100 Rehovot, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Colleaux, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, F-75015 Paris, France Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Decarie, Jean-Claude
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Justine, Dept Med Imaging, Montreal, PQ H3T 1C5, Canada Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

论文数: 引用数:
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Banwell, Brenda
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Joshi, Rasesh B.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Dept Neurobiol, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

He, Xiao-Ping
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Dept Neurobiol, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Patry, Lysanne
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Silver, Rachel J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Prenatal Diag & Med Genet Program, Mt Sinai Hosp, Toronto, ON M5G IZ5, Canada Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Dobrzeniecka, Sylvia
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Univ Montreal, Res Ctr, Montreal, PQ H2L 2W5, Canada Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Islam, Mohammad S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dhaka, Fac Pharm, Dept Clin Pharm & Pharmacol, Dhaka 1000, Bangladesh Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Hasnat, Abul
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dhaka, Fac Pharm, Dept Clin Pharm & Pharmacol, Dhaka 1000, Bangladesh Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Samuels, Mark E.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Aryal, Dipendra K.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Mouse Behav & Neuroendocrine Anal Core Facil, Dept Psychiat & Behav Sci, Durham, NC 27710 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Rodriguiz, Ramona M.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Mouse Behav & Neuroendocrine Anal Core Facil, Dept Psychiat & Behav Sci, Durham, NC 27710 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Jiang, Yong-hui
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Dept Pediat & Neurobiol, Durham, NC 27710 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Wetsel, William C.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Mouse Behav & Neuroendocrine Anal Core Facil, Dept Psychiat & Behav Sci, Durham, NC 27710 USA
Duke Univ, Dept Cell Biol & Neurobiol, Durham, NC 27710 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

McNamara, James O.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Dept Neurobiol, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Rouleau, Guy A.
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Univ Montreal, Res Ctr, Montreal, PQ H2L 2W5, Canada
McGill Univ, Montreal Neurol Inst, Montreal, PQ H3A 2B4, Canada Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Silver, Debra L.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Durham, NC 27708 USA
Duke Univ, Duke Inst Brain Sci, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

论文数: 引用数:
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Pras, Elon
论文数: 0 引用数: 0
h-index: 0
机构:
Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, IL-52621 Ramat Gan, Israel
Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Ramat Gan, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Mitchell, Grant A.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Michaud, Jacques L.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA
[7]
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report
[J].
Seidahmed, Mohammed Zain
;
Salih, Mustafa A.
;
Abdulbasit, Omer B.
;
Samadi, Abdulmohsen
;
Al Hussien, Khalid
;
Miqdad, Abeer M.
;
Biary, Maha S.
;
Alazami, Anas M.
;
Alorainy, Ibrahim A.
;
Kabiraj, Mohammad M.
;
Shaheen, Ranad
;
Alkuraya, Fowzan S.
.
BMC NEUROLOGY,
2016, 16

Seidahmed, Mohammed Zain
论文数: 0 引用数: 0
h-index: 0
机构:
Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia

Salih, Mustafa A.
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud Univ, Div Pediat Neurol, Dept Pediat, Coll Med, Riyadh, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia

Abdulbasit, Omer B.
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Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia

Samadi, Abdulmohsen
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Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia

Al Hussien, Khalid
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Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia

Miqdad, Abeer M.
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Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia

Biary, Maha S.
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Secur Forces Hosp, Dept Pediat, Pediat Neurol, Riyadh, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia

Alazami, Anas M.
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King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia

Alorainy, Ibrahim A.
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机构:
King Khalid Univ Hosp, Dept Radiol & Diagnost Imaging, Riyadh, Saudi Arabia
King Saud Univ, Coll Med, Riyadh, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia

Kabiraj, Mohammad M.
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Prince Sultan Med City, Div Clin Neurophyisol, Dept Neurosci, Riyadh, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia

Shaheen, Ranad
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King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia

Alkuraya, Fowzan S.
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King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh, Saudi Arabia
Al Faisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh, Saudi Arabia Secur Forces Hosp, Dept Pediat, Neonatol Unit, Riyadh 11481, Saudi Arabia
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Cleghorn, Farley
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Palladium, 1331 Penn Ave NW, Washington, DC 20004 USA Palladium, 1331 Penn Ave NW, Washington, DC 20004 USA

Kinkel, Hans Friedemann
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Charite Univ Med Berlin, Dept Trop Med & Int Hlth, Berlin, Germany Palladium, 1331 Penn Ave NW, Washington, DC 20004 USA
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Wang, Chun
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h-index: 0
机构:
Dalian Med Univ, Dept Neurol, Hosp 2, Dalian, Peoples R China Dalian Med Univ, Dept Neurol, Hosp 2, Dalian, Peoples R China

He, Guiyuan
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h-index: 0
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Dalian Municipal Women & Childrens Med Ctr, Ctr Reprod & Genet Med, Dalian, Peoples R China Dalian Med Univ, Dept Neurol, Hosp 2, Dalian, Peoples R China

Ge, Yusong
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h-index: 0
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Dalian Med Univ, Dept Neurol, Hosp 2, Dalian, Peoples R China Dalian Med Univ, Dept Neurol, Hosp 2, Dalian, Peoples R China

Li, Runjie
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Dalian Municipal Women & Childrens Med Ctr, Dept Rehabil, Dalian, Peoples R China Dalian Med Univ, Dept Neurol, Hosp 2, Dalian, Peoples R China

Li, Zhenguo
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Dalian Med Univ, Clin Lab, Hosp 2, Dalian, Peoples R China Dalian Med Univ, Dept Neurol, Hosp 2, Dalian, Peoples R China

Lin, Yongzhong
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Dalian Med Univ, Dept Neurol, Hosp 2, Dalian, Peoples R China Dalian Med Univ, Dept Neurol, Hosp 2, Dalian, Peoples R China