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Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2012-05, Vol.90 (5), p.856-863

2012

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Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2011-07, Vol.89 (1), p.176-182

2011

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Secured Dynamic Request Scheduling and Optimal CSP Selection for Analyzing Cloud Service Performance Using Intelligent Approaches

IEEE access, 2023, Vol.11, p.140914-140933

2023

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Machine Learning Approach to Classification of Online Users by Exploiting Information Seeking Behavior

IEEE access, 2024, Vol.12, p.53234-53249

2024

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An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

Gene, 2022-07, Vol.833, p.146582-146582, Article 146582

2022

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Current updates on genetic spectrum of usher syndrome

Nucleosides, nucleotides & nucleic acids, 2024-05, p.1-24

2024

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Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

BMC medical genetics, 2016-02, Vol.17 (1), p.10-10, Article 10

2016

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The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly

Journal of the Pakistan Medical Association, 2021-10, Vol.71 (10), p.2391-2396

2021

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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

Frontiers in neurology, 2023-05, Vol.14, p.1168307-1168307

2023

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Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source

European journal of medical genetics, 2018-04, Vol.61 (4), p.204-208

2018

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Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families

Genes, 2022-09, Vol.13 (9), p.1630

2022

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A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family

Frontiers in endocrinology (Lausanne), 2023-03, Vol.14, p.1066182-1066182

2023

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A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family

Basic and clinical andrology, 2024-02, Vol.34 (1), p.4-4, Article 4

2024

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Computational analyses of RPIA gene mutation causing Ribose-5-phosphate isomerase deficiency: a rarest known metabolic disorder in humans

Journal of Taibah University for Science, 2023-12, Vol.17 (1)

2023

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The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family ( ARMC3 )

Genes, 2022-12, Vol.13 (12), p.2299

2022

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A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

BMC medical genetics, 2017-04, Vol.18 (1), p.42-42, Article 42

2017

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Lumateperone Interact with S-Protein of Ebola Virus and TIM-1 of Human Cell Membrane: Insights from Computational Studies

Applied sciences, 2022-09, Vol.12 (17), p.8820

2022

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Genetics of Human Isolated Acromesomelic Dysplasia

European journal of medical genetics, 2016-04, Vol.59 (4), p.198-203

2016

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Mutation Analysis of a Pakistani Oculocutaneous Albinism Family Identifies a Novel Splice Site Defect in OCA2 Gene

Pakistan journal of zoology, 2022-06, Vol.54 (3), p.1215

2022

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Development and Evaluation of Essential Oil-Based Nanoemulgel Formulation for the Treatment of Oral Bacterial Infections

Gels, 2023-03, Vol.9 (3), p.252

2023

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Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

Genes, 2023-04, Vol.14 (4), p.869

2023

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CHONDROMATOUS MASS ON LOWER FOREARM

Gomal journal of medical sciences, 2017-12, Vol.15 (2)

2017

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In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology

Genes, 2022-04, Vol.13 (4), p.698

2022

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In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene

Genes, 2022-04, Vol.13 (4), p.672

2022

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Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice

JCI insight, 2023-02, Vol.8 (3)

2023

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Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

Secured Dynamic Request Scheduling and Optimal CSP Selection for Analyzing Cloud Service Performance Using Intelligent Approaches

Machine Learning Approach to Classification of Online Users by Exploiting Information Seeking Behavior

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

Current updates on genetic spectrum of usher syndrome

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly

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

Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source

Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family

A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family

Computational analyses of RPIA gene mutation causing Ribose-5-phosphate isomerase deficiency: a rarest known metabolic disorder in humans

The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family ( ARMC3 )

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

Lumateperone Interact with S-Protein of Ebola Virus and TIM-1 of Human Cell Membrane: Insights from Computational Studies

Genetics of Human Isolated Acromesomelic Dysplasia

Mutation Analysis of a Pakistani Oculocutaneous Albinism Family Identifies a Novel Splice Site Defect in OCA2 Gene

Development and Evaluation of Essential Oil-Based Nanoemulgel Formulation for the Treatment of Oral Bacterial Infections

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

CHONDROMATOUS MASS ON LOWER FOREARM

In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology

In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene

Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice

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