Naveed Wasif
Kiel, SH, Germany
Last Updated: 09/26/2026
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Found 29 publications
The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability.
Journal: Annals of human genetics
Published: August 28, 2025
Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.
Journal: Biochemical genetics
Published: January 13, 2025
A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family.
Journal: Molecular genetics & genomic medicine
Published: October 28, 2024
Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.
Journal: BMC medical genomics
Published: March 25, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Journal: medRxiv : the preprint server for health sciences
Published: July 28, 2023
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).
Journal: Human mutation
Published: July 14, 2023
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.
Journal: The journal of gene medicine
Published: July 11, 2023
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.
Journal: BMC neurology
Published: May 24, 2023
A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family.
Journal: Human genome variation
Published: March 23, 2023
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.
Journal: Frontiers in neurology
Published: February 17, 2023
Last Updated: 09/26/2026