Rafiullah Rafiullah
Quetta, BA, Pakistan
Last Updated: 09/26/2026
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Found 10 publications
IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF MICRORNAS REGULATING HTERT.
Journal: Experimental oncology
Published: October 06, 2025
Association of Serotonin Transporter Gene 5HTTLPR rs25531 Polymorphism With Escitalopram Efficacy in Patients With Major Depressive Disorder.
Journal: Pharmacotherapy
Published: July 01, 2025
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Journal: Cell death & disease
Published: July 14, 2023
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.
Journal: Journal of neurogenetics
Published: December 12, 2022
Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
Journal: Medicina (Kaunas, Lithuania)
Published: October 18, 2022
Sex Hormones Regulate SHANK Expression.
Journal: Frontiers in molecular neuroscience
Published: April 30, 2018
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Journal: European journal of human genetics : EJHG
Published: April 11, 2017
Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization.
Journal: Human molecular genetics
Published: December 20, 2016
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
Journal: Journal of human genetics
Published: December 10, 2015
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
Journal: Journal of medical genetics
Published: May 06, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026