Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus: A whisper with functional consequences.
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Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2.Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene.Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.
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Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus: A whisper with functional consequences.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 12 December 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Natural breaking of the matern ...... with functional consequences.
@en
Natural breaking of the matern ...... with functional consequences.
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type
label
Natural breaking of the matern ...... with functional consequences.
@en
Natural breaking of the matern ...... with functional consequences.
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prefLabel
Natural breaking of the matern ...... with functional consequences.
@en
Natural breaking of the matern ...... with functional consequences.
@nl
P2860
P356
P1476
Natural breaking of the matern ...... r with functional consequences
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P2093
Françoise Muscatelli
Valery Matarazzo
P2860
P304
P356
10.4161/RDIS.27228
P577
2013-12-12T00:00:00Z