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The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant
by
Katata, Yu
,
Uneoka, Saki
,
Saijyo, Naoya
,
Aihara, Yu
,
Miyazoe, Takamitsu
,
Koyamaishi, Shun
,
Oikawa, Yoshitsugu
,
Ito, Yuya
,
Abe, Yu
,
Numata‐Uematsu, Yurika
,
Takayama, Jun
,
Kikuchi, Atsuo
,
Tamiya, Gen
,
Uematsu, Mitsugu
,
Kure, Shigeo
Published in
American journal of medical genetics. Part A
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The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant
by
Katata, Yu
,
Uneoka, Saki
,
Saijyo, Naoya
,
Aihara, Yu
,
Miyazoe, Takamitsu
,
Koyamaishi, Shun
,
Oikawa, Yoshitsugu
,
Ito, Yuya
,
Abe, Yu
,
Numata-Uematsu, Yurika
,
Takayama, Jun
,
Kikuchi, Atsuo
,
Tamiya, Gen
,
Uematsu, Mitsugu
,
Kure, Shigeo
Published in
American journal of medical genetics. Part A
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American Journal Of Medical Genetics. Part A
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Subjects
Action Potential
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Alg14
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Apgar Score
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Atrophy
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Congenital Defects
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Congenital Disorders Of Glycosylation
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Congenital Myasthenic Syndrome
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Epilepsy
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Exons
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Genetics & Heredity
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Humans
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Life Sciences & Biomedicine
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Magnetic Resonance Imaging
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Mutation
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Myasthenia
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Myasthenic Syndromes, Congenital - Complications
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Myasthenic Syndromes, Congenital - Diagnosis
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Myasthenic Syndromes, Congenital - Genetics
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Myelination
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Neuromuscular Junctions
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Wiley Online Library All Journals
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Wiley-Blackwell Read & Publish Collection
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