The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.Forebrain neurogenesis: From embryo to adult.Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay.Dysfunctional oleoylethanolamide signaling in a mouse model of Prader-Willi syndrome.Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty.Genetic analysis of very obese children with autism spectrum disorder.Oxytocin Signaling in the Early Life of Mammals: Link to Neurodevelopmental Disorders Associated with ASD.The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways.Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes.Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.The tempo of human childhood: a maternal foot on the accelerator, a paternal foot on the brake.A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism
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P2860
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
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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 19 May 2016
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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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The phenotypic spectrum of Sch ...... individuals from 14 families.
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The phenotypic spectrum of Sch ...... individuals from 14 families.
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The phenotypic spectrum of Sch ...... individuals from 14 families.
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The phenotypic spectrum of Sch ...... individuals from 14 families.
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The phenotypic spectrum of Sch ...... individuals from 14 families.
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The phenotypic spectrum of Sch ...... individuals from 14 families.
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The phenotypic spectrum of Sch ...... individuals from 14 families.
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Ada Hamosh
Arie van Haeringen
Claudia A L Ruivenkamp
Connie Stumpel
Conny M A van Ravenswaaij-Arts
Danielle Lemke
Els Peeters
Emmelien Aten
Gerarda Derksen-Lubsen
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10.1038/GIM.2016.53
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2016-05-19T00:00:00Z
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1038967515