JL
Jaber Lyahyai

Publications (16)

Identification of Novel and De Novo Mutation in the SCN1A Gene By Exome Sequencing Confirms Dravet Syndrome in Moroccan Child: A Case Report
Article scientifique · 2023
Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
Article scientifique · 2022
M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the Literature
Article scientifique · 2021
Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report
Article scientifique · 2021
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
Article scientifique · 2021
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
Article scientifique · 2020
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
Article scientifique · 2020
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.
Article scientifique · 2020
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy
Article scientifique · 2020
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy
Article scientifique · 2020
Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series
Article scientifique · 2019
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
Article scientifique · 2018
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Article scientifique · 2018
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Article scientifique · 2018
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
Article scientifique · 2017
20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature
Article scientifique · 2016

Domaines principaux

Sciences de la santé13 Sciences de la vie et biotechnologies3

Statistiques

Consultations53
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