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EUROPEAN JOURNAL OF HUMAN GENETICS
Rivista
Codice:
E236091
ISSN:
1476-5438
Dati Generali
Dati Generali
Pubblicazioni (7)
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Articolo
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
Articolo
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
Articolo
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
Articolo
Identification of the DNA methylation signature of Mowat-Wilson syndrome
Articolo
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
Articolo
RICTOR variants are associated with neurodevelopmental disorders
Articolo
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