MEF2C deletions and mutations versus duplications: a clinical comparison.
about
Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studiesMutations in Human Accelerated Regions Disrupt Cognition and Social BehaviorPhenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.
P2860
MEF2C deletions and mutations versus duplications: a clinical comparison.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年學術文章
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2013年學術文章
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2013年學術文章
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name
MEF2C deletions and mutations versus duplications: a clinical comparison.
@en
MEF2C deletions and mutations versus duplications: a clinical comparison.
@nl
type
label
MEF2C deletions and mutations versus duplications: a clinical comparison.
@en
MEF2C deletions and mutations versus duplications: a clinical comparison.
@nl
prefLabel
MEF2C deletions and mutations versus duplications: a clinical comparison.
@en
MEF2C deletions and mutations versus duplications: a clinical comparison.
@nl
P2093
P1476
MEF2C deletions and mutations versus duplications: a clinical comparison
@en
P2093
Ambra Rizzo
Chiara Pantaleoni
Erika Della Mina
Francesca L Sciacca
Gloria Bedini
Margherita Estienne
Roberto Ciccone
Silvia Esposito
Simone Gana
Valentina Achille
P304
P356
10.1016/J.EJMG.2013.01.011
P577
2013-02-10T00:00:00Z