Wiam Smaili
Rabat, Morocco
Last Updated: 09/26/2026
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Found 11 publications
High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
Journal: Journal of applied genetics
Published: July 03, 2023
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.
Journal: African health sciences
Published: November 19, 2021
Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis.
Journal: BMC medical genetics
Published: August 06, 2019
Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.
Journal: Journal of medical case reports
Published: March 29, 2019
Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.
Journal: European journal of medical genetics
Published: October 09, 2018
Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.
Journal: Cytogenetic and genome research
Published: September 11, 2017
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.
Journal: European journal of medical genetics
Published: June 14, 2017
A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.
Journal: BMC medical genetics
Published: August 24, 2016
CALR gene mutational profile in myeloproliferative neoplasms with non-mutated JAK2 in Moroccan patients: A case series and germline in-frame deletion.
Journal: Current research in translational medicine
Published: June 13, 2016
A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.
Journal: Journal of medical case reports
Published: March 22, 2016
Showing 1-11 of 11
Last Updated: 09/26/2026