Saadia M. Saadi

Faisalabad, PB 61010, Pakistan

Last Updated: 09/26/2026

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Found 8 publications

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: May 16, 2024

Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.

Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: May 15, 2024

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Journal: Brain : a journal of neurology

Published: March 14, 2024

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.

Journal: Genes

Published: June 08, 2023

A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.

A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.

Journal: Clinical genetics

Published: April 07, 2023

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Journal: Brain : a journal of neurology

Published: January 27, 2023

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Journal: Genes

Published: April 16, 2021

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.

Journal: European journal of medical genetics

Published: September 15, 2020

Showing 1-8 of 8

Last Updated: 09/26/2026