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A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Genet Res (Camb). 2023 Oct 4;2023:9999660. doi: 10.1155/2023/9999660. eCollection 2023.
Genet Res (Camb). 2023.
PMID: 37829154
Free PMC article.
A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
Ain Ul Batool S, Almatrafi A, Fadhli F, Alluqmani M, Sadia, Ali G, Basit S.
Ain Ul Batool S, et al.
Am J Med Genet A. 2022 Apr;188(4):1075-1082. doi: 10.1002/ajmg.a.62614. Epub 2021 Dec 17.
Am J Med Genet A. 2022.
PMID: 34918859
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Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.
Ali G, Sadia, Foo JN, Nasir A, Chang CH, Chew EG, Latif Z, Azeem Z, Ain-Ul-Batool S, Kazmi SAR, Awan NB, Khan AH, Rehman FU, Khalid M, Wali A, Sarwar S, Akhtar W, Ahmed Abbasi A, Nisar R.
Ali G, et al. Among authors: ain ul batool s.
Biomed Res Int. 2021 Feb 23;2021:6626015. doi: 10.1155/2021/6626015. eCollection 2021.
Biomed Res Int. 2021.
PMID: 33688495
Free PMC article.
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Sequencing and Characterization of Mitochondrial Protein-Coding Genes for Schizothorax niger (Cypriniformes: Cyprinidae) with Phylogenetic Consideration.
Akhtar T, Ali G, Shafi N, Akhtar W, Khan AH, Latif Z, Wali A, Ain-Ul-Batool S, Khan AR, Mumtaz S, Altaf SI, Khawaja S, Sadia, Khalid M, Rehman FU, Javid Q.
Akhtar T, et al. Among authors: ain ul batool s.
Biomed Res Int. 2020 Dec 7;2020:5980135. doi: 10.1155/2020/5980135. eCollection 2020.
Biomed Res Int. 2020.
PMID: 33490246
Free PMC article.
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