Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Nadine AME van der Beek

A New Case of SMA Phenotype Without Epilepsy Due to Biallelic Variants in ASAH1

European Journal of Human Genetics

English

Related publications

Identification of Biallelic Germline Variants of SRP68 in a Sporadic Case With Severe Congenital Neutropenia

English

Biallelic ERBB3 Loss-Of-Function Variants Are Associated With a Novel Multisystem Syndrome Without Congenital Contracture

Orphanet Journal of Rare Diseases

English

A Novel Phenotype in N-Glycosylation Disorders: Gillessen-Kaesbach–Nishimura Skeletal Dysplasia Due to Pathogenic Variants in ALG9

European Journal of Human Genetics

English

A New System Identification Approach to Identify Genetic Variants in Sequencing Studies for a Binary Phenotype

English

Novel Epilepsy Phenotype Associated to a Known SCN8A Mutation

Seizure : the journal of the British Epilepsy Association

English

Diffic Ulties of Diagnostics of Epilepsy Due to Mol Ybdenum Cofactor Deficienc Y: A Case Report

Russkii Zhunal Detskoi Nevrologii

English

Biallelic Mutations in CFAP65 Lead to Severe Asthenoteratospermia Due to Acrosome Hypoplasia and Flagellum Malformations

Journal of Medical Genetics

English

A Surgical Case of Frontal Lobe Epilepsy Due to Focal Cortical Dysplasia Accompanied by Olfactory Nerve Enlargement: Case Report

Neurologia Medico-Chirurgica

English

Correction To: The Landscape of Epilepsy-Related GATOR1 Variants

Genetics in Medicine

English