Siham C. Elalaoui

Rabat, Morocco

Last Updated: 09/26/2026

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Found 38 publications

Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene.

Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene.

Journal: Neurology. Genetics

Published: September 20, 2024

Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants.

Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: September 11, 2024

Novel variant related to SATB2-associated syndrome.

Novel variant related to SATB2-associated syndrome.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: June 20, 2024

A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.

A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.

Journal: Molecular biology reports

Published: June 04, 2024

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report.

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report.

Journal: Balkan journal of medical genetics : BJMG

Published: March 14, 2024

Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report.

Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report.

Journal: Molecular syndromology

Published: July 05, 2023

Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.

Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.

Journal: Annals of laboratory medicine

Published: February 16, 2023

Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability.

Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability.

Journal: Ophthalmic genetics

Published: June 06, 2022

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.

Journal: African health sciences

Published: November 19, 2021

Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia.

Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia.

Journal: The Pan African medical journal

Published: November 29, 2020

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.

Journal: The Pan African medical journal

Published: September 21, 2020

Natural history of non-lethal Raine syndrome during childhood.

Natural history of non-lethal Raine syndrome during childhood.

Journal: Orphanet journal of rare diseases

Published: October 24, 2019

Showing 1-12 of 38

Last Updated: 09/26/2026