Younus M - Search Results

1

SGCD Homozygous Nonsense Mutation (p.Arg97^∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.

Younus M, Ahmad F, Malik E, Bilal M, Kausar M, Abbas S, Shaheen S, Kakar MU, Alfadhel M, Umair M. Younus M, et al. Front Genet. 2019 Jan 23;9:727. doi: 10.3389/fgene.2018.00727. eCollection 2018. Front Genet. 2019. PMID: 30733730 Free PMC article.

2

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.

Mehmood S, Jan A, Muhammad D, Ahmad F, Mir H, Younus M, Ali G, Ayub M, Ansar M, Ahmad W. Mehmood S, et al. Among authors: younus m. Australas J Dermatol. 2015 Aug;56(3):e66-70. doi: 10.1111/ajd.12157. Epub 2014 Mar 13. Australas J Dermatol. 2015. PMID: 24628704

3

Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.

Mehmood S, Shah SH, Jan A, Younus M, Ahmad F, Ayub M, Ahmad W. Mehmood S, et al. Among authors: younus m. Pediatr Dermatol. 2016 Jan-Feb;33(1):e40-2. doi: 10.1111/pde.12727. Epub 2015 Dec 8. Pediatr Dermatol. 2016. PMID: 26645693

4

Disease causing homozygous variants in the human hairless gene.

Mehmood S, Jan A, Raza SI, Ahmad F, Younus M, Irfanullah, Shahi S, Ayub M, Khan S, Ahmad W. Mehmood S, et al. Among authors: younus m. Int J Dermatol. 2016 Sep;55(9):977-81. doi: 10.1111/ijd.13109. Epub 2015 Dec 18. Int J Dermatol. 2016. PMID: 26680117

5

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D).

Umair M, Khan A, Hayat A, Abbas S, Asiri A, Younus M, Amin W, Nawaz S, Khan S, Malik E, Alfadhel M, Ahmad F. Umair M, et al. Among authors: younus m. Front Pediatr. 2019 Aug 28;7:343. doi: 10.3389/fped.2019.00343. eCollection 2019. Front Pediatr. 2019. PMID: 31555621 Free PMC article.

6

Automated multi-class classification of skin lesions through deep convolutional neural network with dermoscopic images.

Iqbal I, Younus M, Walayat K, Kakar MU, Ma J. Iqbal I, et al. Among authors: younus m. Comput Med Imaging Graph. 2021 Mar;88:101843. doi: 10.1016/j.compmedimag.2020.101843. Epub 2020 Dec 24. Comput Med Imaging Graph. 2021. PMID: 33445062

7

Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A.

Umair M, Palander O, Bilal M, Almuzzaini B, Alam Q, Ahmad F, Younus M, Khan A, Waqas A, Rafeeq MM, Alfadhel M. Umair M, et al. Among authors: younus m. Genomics. 2021 Jul;113(4):2495-2502. doi: 10.1016/j.ygeno.2021.05.015. Epub 2021 May 20. Genomics. 2021. PMID: 34022343 Free article.

8

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: younus m. Brain. 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. Brain. 2022. PMID: 34515763 Free PMC article.

9

Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26.

Ullah A, Lin Z, Younus M, Shafiq S, Khan S, Rasheed M, Mahmood A, Alqosaibi AI, Alshehri MA, Khan A, Umair M. Ullah A, et al. Among authors: younus m. J Gene Med. 2022 Apr;24(4):e3412. doi: 10.1002/jgm.3412. Epub 2022 Feb 7. J Gene Med. 2022. PMID: 35075722

10

Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment.

Kakar MU, Akram M, Zubair Mehboob M, Younus M, Bilal M, Waqas A, Nazir A, Shafi M, Umair M, Ahmad S, Rafeeq MM. Kakar MU, et al. Among authors: younus m. PLoS One. 2022 Jun 16;17(6):e0268078. doi: 10.1371/journal.pone.0268078. eCollection 2022. PLoS One. 2022. PMID: 35709191 Free PMC article.

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