Lista de obras - Muhammad Naeem - Dominio Público Uruguay

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.

artículo científico publicado en 2016

A door-to-door survey to estimate the prevalence of Parkinsonism in Pakistan

artículo científico publicado en 2016

A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin

artículo científico publicado en 2009

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

artículo científico publicado en 2006

A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.

artículo científico publicado en 2013

A 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.

artículo científico publicado en 2016

Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32

artículo científico publicado en 2010

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

artículo científico publicado en 2013

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

artículo científico publicado en 2006

Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing

scientific article published on 01 September 2018

Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant

scientific article published on 01 November 2019

Human stratum corneum proteomics reveals cross-linking of a broad spectrum of proteins in cornified envelopes

artículo científico publicado en 2019

Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis

artículo científico publicado en 2018

Identification of human parechovirus genotype, HPeV-12, in a paralytic child with diarrhea ⬇️

artículo científico publicado el 11 de septiembre de 2012

Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family.

artículo científico publicado en 2013

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families

scientific article published on 12 February 2020

Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family

scientific article published on 21 November 2018

Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing

artículo científico publicado en 2019

Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families

artículo científico publicado en 2018

Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family ⬇️

artículo científico publicado el 26 de julio de 2011

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia

artículo científico publicado en 2010

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.

artículo científico publicado en 2014

Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease

artículo científico publicado en 2011

Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis.

artículo científico publicado en 2018

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

artículo científico publicado en 2005

Proteomic genotyping of fingermark donors with genetically variant peptides

artículo científico publicado en 2019

Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis

scientific article published on 10 April 2019

Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.

artículo científico publicado en 2007

Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias

artículo científico publicado en 2019

Study of the effect of antiviral therapy on homocysteinemia in hepatitis C virus- infected patients ⬇️

artículo científico publicado el 28 de agosto de 2012

Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.

artículo científico publicado en 2015

Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family

scientific article published on 01 December 2019

Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family

artículo científico publicado en 2017

Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype

artículo científico publicado en 2019

Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family

artículo científico publicado en 2018

Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

scientific article published on 23 July 2018

Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family

artículo científico publicado en 2017

Lista de obras de Muhammad Naeem

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.

A door-to-door survey to estimate the prevalence of Parkinsonism in Pakistan

A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.

A 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.

Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing

Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant

Human stratum corneum proteomics reveals cross-linking of a broad spectrum of proteins in cornified envelopes

Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis

Identification of human parechovirus genotype, HPeV-12, in a paralytic child with diarrhea ⬇️

Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family.

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families

Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family

Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing

Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families

Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family ⬇️

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia

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.

Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease

Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis.

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

Proteomic genotyping of fingermark donors with genetically variant peptides

Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis

Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.

Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias

Study of the effect of antiviral therapy on homocysteinemia in hepatitis C virus- infected patients ⬇️

Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.

Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family

Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family

Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype

Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family

Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family