Rubina Dad

Islamabad, IS, Pakistan

Last Updated: 09/26/2026

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Found 8 publications

Structural and functional annotation of PR/SET Domain (PRDM) protein family: In-silico study elaborating role of PRDM12 mutation in congenital insensitivity to pain.

Structural and functional annotation of PR/SET Domain (PRDM) protein family: In-silico study elaborating role of PRDM12 mutation in congenital insensitivity to pain.

Journal: Computational biology and chemistry
Published: February 11, 2019

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.

Journal: Neurology. Genetics
Published: January 10, 2018

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

Journal: Neurology. Genetics
Published: April 13, 2017

Corrigendum to "Clinical and genetic studies in patients with Lafora disease from Pakistan"[J. Neurol. Sci. 373 (2017) 263-267].

Corrigendum to "Clinical and genetic studies in patients with Lafora disease from Pakistan"[J. Neurol. Sci. 373 (2017) 263-267].

Journal: Journal of the neurological sciences
Published: March 22, 2017

Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26.

Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26.

Journal: Gene
Published: January 31, 2017

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.

Journal: Neurology. Genetics
Published: December 02, 2016

Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan.

Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan.

Journal: Clinical genetics
Published: June 13, 2016

Clinical and genetic studies in patients with Lafora disease from Pakistan.

Clinical and genetic studies in patients with Lafora disease from Pakistan.

Journal: Journal of the neurological sciences
Published: June 02, 2016
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Last Updated: 09/26/2026