about
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail typeMutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular diseaseA novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.A door-to-door survey to estimate the prevalence of Parkinsonism in PakistanA mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani originA Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family.A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis.Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family.Molecular study of X-linked ichthyosis: report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient.Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasiaWhole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani familyIdentification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani familiesWhole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani familyIdentification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosisMolecular Study of Nephronophthisis in 7 Unrelated Pakistani FamiliesGenetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation SequencingWhole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotypeMolecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome SequencingSpectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemiasHuman stratum corneum proteomics reveals cross-linking of a broad spectrum of proteins in cornified envelopesProteomic genotyping of fingermark donors with genetically variant peptidesGenetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variantProteomic manifestations of genetic defects in autosomal recessive congenital ichthyosisWhole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani familyMolecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family
P50
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P50
description
researcher
@en
հետազոտող
@hy
name
Muhammad Naeem
@de
Muhammad Naeem
@en
Muhammad Naeem
@es
Muhammad Naeem
@fr
Muhammad Naeem
@nl
Muhammad Naeem
@sl
type
label
Muhammad Naeem
@de
Muhammad Naeem
@en
Muhammad Naeem
@es
Muhammad Naeem
@fr
Muhammad Naeem
@nl
Muhammad Naeem
@sl
altLabel
M Naeem
@en
prefLabel
Muhammad Naeem
@de
Muhammad Naeem
@en
Muhammad Naeem
@es
Muhammad Naeem
@fr
Muhammad Naeem
@nl
Muhammad Naeem
@sl
P106
P1153
55353196600
P21
P31
P496
0000-0002-3894-3085