Lista de obras - Muhammad Ansar - Dominio Público Uruguay

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

artículo científico publicado en 2022

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

artículo científico publicado en 2018

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

scientific article published on 09 May 2019

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

artículo científico publicado en 2019

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

scientific article published on 01 March 2019

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

artículo científico publicado en 2017

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

scientific article published on 04 March 2020

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

artículo científico publicado en 2018

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

artículo científico publicado en 2016

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

artículo científico publicado en 2016

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

artículo científico publicado en 2013

NS4A protein as a marker of HCV history suggests that different HCV genotypes originally evolved from genotype 1b ⬇️

artículo científico publicado el 23 de junio de 2011

New variants and in silico analyses in GRK1 associated Oguchi disease

artículo científico publicado en 2020

RNAi as a new therapeutic strategy against HCV.

artículo científico publicado en 2010

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

artículo científico publicado en 2013

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.

artículo científico publicado en 2016

Stable Huh-7 cell lines expressing non-structural proteins of genotype 1a of hepatitis C virus ⬇️

artículo científico publicado el 23 de enero de 2013

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency

scientific article published on 01 March 2020

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

artículo científico publicado en 2018

Lista de obras de Muhammad Ansar

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

NS4A protein as a marker of HCV history suggests that different HCV genotypes originally evolved from genotype 1b ⬇️

New variants and in silico analyses in GRK1 associated Oguchi disease

RNAi as a new therapeutic strategy against HCV.

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.

Stable Huh-7 cell lines expressing non-structural proteins of genotype 1a of hepatitis C virus ⬇️

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3