Perinatal‐lethal Gaucher disease
Cyril Mignot(Sorbonne Université), T Billette de Villemeur(Sorbonne Université), A. Gélot(Sorbonne Université), J Costil(Sorbonne Université), Cristina Bianco(Centre Hospitalier Sainte-Anne), M Voyer(Institut de Soudure), F. Daffos, Desmond Duff, P. Loget, Patrick Fargier(Clinique Mutualiste Chirurgicale), S. Odent(CIC Rennes), J. Roume(Centre Hospitalier Intercommunal de Poissy), I Maire(Hôpital Debrousse), M. T. Vanier(Inserm), Patrice Josset(Sorbonne Université), B. Bessières(Institut de Soudure), Fiorella Antonio Menez(Hôpital Necker-Enfants Malades)
Cited by 127
Related Papers
Rapidly Involuting Congenital Hemangioma: Clinical and Histopathologic Features
|Pediatric and Developmental Pathology|2003|360
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
|The American Journal of Human Genetics|2020|334
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
|Nature Genetics|2010|285
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
|Journal of Medical Genetics|2017|254