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European Journal of Medical Genetics|October 26, 2018
Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type MaroteauxNoor Ul Ain, Muddassar Iqbal, Helena Valta, et al.Journal of Medical Genetics|June 28, 2020
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1Noor Ul Ain, Marta Baroncelli, Alice Costantini, et al.Scientific Reports|February 19, 2026
Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genesAmina Iftikhar Butt, Fariya Khan Bazai, Kaleemullah Kakar, et al.Inflammopharmacology|February 26, 2025
Bacillus subtilis (NMCC-path-14) ameliorates acute phase of arthritis via modulating NF-κB and Nrf-2 signaling in mice modelMuhammad Usama Mazhar, Sadaf Naz, Tayyaba Zulfiqar, et al.European Journal of Medical Genetics|May 30, 2020
A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous familySamina Yasin, Saima Mustafa, Arzoo Ayesha, et al.Biological Research|July 24, 2014
Compositional studies and Biological activities of Perovskia abrotanoides Kar. oilsSadaf Naz Ashraf, Muhammad Zubair, Komal Rizwan, et al.Human Mutation|July 15, 2021
Variants of human CLDN9 cause mild to profound hearing lossMemoona Ramzan, Christophe Philippe, Inna A Belyantseva, et al.European Journal of Medical Genetics|August 21, 2020
A novel homozygous KY variant causing a complex neurological disorderBeenish Arif, Arisha Rasheed, Kishore R Kumar, et al.Scientific Reports|June 21, 2024
Identification and analyses of exonic and copy number variants in spastic paraplegiaAnum Shafique, Ayesha Nadeem, Faiza Aslam, et al.Parkinsonism & Related Disorders|February 17, 2018
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disordersHumera Manzoor, Norbert Brüggemann, Hafiz Muhammad Jafar Hussain, et al.Pageof 12