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Neurogenetics
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February 17, 2016
Recessive mutations of TMC1 associated with moderate to severe hearing loss
Ayesha Imtiaz, Azra Maqsood, Atteeq U Rehman, et al.
European Journal of Medical Genetics
|
August 21, 2020
A novel homozygous KY variant causing a complex neurological disorder
Beenish Arif, Arisha Rasheed, Kishore R Kumar, et al.
Scientific Reports
|
June 21, 2024
Identification and analyses of exonic and copy number variants in spastic paraplegia
Anum Shafique, Ayesha Nadeem, Faiza Aslam, et al.
Parkinsonism & Related Disorders
|
February 17, 2018
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders
Humera Manzoor, Norbert Brüggemann, Hafiz Muhammad Jafar Hussain, et al.
Pakistan Journal of Pharmaceutical Sciences
|
September 27, 2015
Acoustical behavior of some amino acids in aqueous disodium citrate solutions over temperature range (298.15-313.15) K
Muhammad Asghar Jamal, Muhammad Kaleem Khosa, Majid Muneer, et al.
Inflammopharmacology
|
February 27, 2024
Anti-inflammatory and anti-arthritic potential of Coagulansin-A: in vitro and in vivo studies
Sadaf Naz, Muhammad Usama Mazhar, Umakant Yadav, et al.
Scientific Reports
|
January 28, 2026
Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families
Faiza Aslam, Muhammad Wajid, Amina Iftikhar Butt, et al.
Genes
|
October 28, 2023
Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (<i>USP53</i>) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1-3 and Granular Dentate with AMPA Synapse Interactions
Ambreen Kanwal, Sohail A Sheikh, Faiza Aslam, et al.
Genes
|
February 25, 2023
Exome Sequencing Reveals <i>SLC4A11</i> Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma
Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2023
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans
Humera Manzoor, Hafsa Zahid, Christopher A Emerling, et al.
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of 9
Search research articles
Search
Showing results (51-60 of 89) with videos related to
Sort By:
Page
of 9
Neurogenetics
|
February 17, 2016
Recessive mutations of TMC1 associated with moderate to severe hearing loss
Ayesha Imtiaz, Azra Maqsood, Atteeq U Rehman, et al.
European Journal of Medical Genetics
|
August 21, 2020
A novel homozygous KY variant causing a complex neurological disorder
Beenish Arif, Arisha Rasheed, Kishore R Kumar, et al.
Scientific Reports
|
June 21, 2024
Identification and analyses of exonic and copy number variants in spastic paraplegia
Anum Shafique, Ayesha Nadeem, Faiza Aslam, et al.
Parkinsonism & Related Disorders
|
February 17, 2018
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders
Humera Manzoor, Norbert Brüggemann, Hafiz Muhammad Jafar Hussain, et al.
Pakistan Journal of Pharmaceutical Sciences
|
September 27, 2015
Acoustical behavior of some amino acids in aqueous disodium citrate solutions over temperature range (298.15-313.15) K
Muhammad Asghar Jamal, Muhammad Kaleem Khosa, Majid Muneer, et al.
Inflammopharmacology
|
February 27, 2024
Anti-inflammatory and anti-arthritic potential of Coagulansin-A: in vitro and in vivo studies
Sadaf Naz, Muhammad Usama Mazhar, Umakant Yadav, et al.
Scientific Reports
|
January 28, 2026
Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families
Faiza Aslam, Muhammad Wajid, Amina Iftikhar Butt, et al.
Genes
|
October 28, 2023
Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (<i>USP53</i>) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1-3 and Granular Dentate with AMPA Synapse Interactions
Ambreen Kanwal, Sohail A Sheikh, Faiza Aslam, et al.
Genes
|
February 25, 2023
Exome Sequencing Reveals <i>SLC4A11</i> Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma
Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2023
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans
Humera Manzoor, Hafsa Zahid, Christopher A Emerling, et al.
Page
of 9