Abbas S - Search Results

1

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G; Undiagnosed Diseases Network; Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A. Royer-Bertrand B, et al. Among authors: abbas s. Mol Autism. 2021 Oct 26;12(1):69. doi: 10.1186/s13229-021-00473-3. Mol Autism. 2021. PMID: 34702355 Free PMC article.

2

First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.

Umair M, Ullah A, Abbas S, Ahmad F, Basit S, Ahmad W. Umair M, et al. Among authors: abbas s. Clin Genet. 2018 Mar;93(3):699-702. doi: 10.1111/cge.13152. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29023680

3

Long non-coding RNAs as molecular players in plant defense against pathogens.

Zaynab M, Fatima M, Abbas S, Umair M, Sharif Y, Raza MA. Zaynab M, et al. Among authors: abbas s. Microb Pathog. 2018 Aug;121:277-282. doi: 10.1016/j.micpath.2018.05.050. Epub 2018 May 31. Microb Pathog. 2018. PMID: 29859899 Review.

4

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. Among authors: abbas s. Front Genet. 2019 Jan 23;9:727. doi: 10.3389/fgene.2018.00727. eCollection 2018. Front Genet. 2019. PMID: 30733730 Free PMC article.

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: abbas s. Front Pediatr. 2019 Aug 28;7:343. doi: 10.3389/fped.2019.00343. eCollection 2019. Front Pediatr. 2019. PMID: 31555621 Free PMC article.

6

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Khan A, Wang R, Han S, Umair M, Abbas S, Khan MI, Alshabeeb MA, Alfadhel M, Zhang X. Khan A, et al. Among authors: abbas s. BMC Med Genet. 2019 Oct 29;20(1):166. doi: 10.1186/s12881-019-0895-7. BMC Med Genet. 2019. PMID: 31664938 Free PMC article.

7

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Khan A, Wang R, Han S, Umair M, Abbas S, Khan MI, Alshabeeb MA, Alfadheland M, Zhang X. Khan A, et al. Among authors: abbas s. BMC Med Genet. 2019 Dec 12;20(1):195. doi: 10.1186/s12881-019-0929-1. BMC Med Genet. 2019. PMID: 31830914 Free PMC article.

8

Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.

Hayat A, Umair M, Abbas S, Rauf A, Ahmad F, Ullah S, Ahmad W, Khan B. Hayat A, et al. Among authors: abbas s. Genomics. 2020 Jul;112(4):2729-2733. doi: 10.1016/j.ygeno.2020.03.006. Epub 2020 Mar 5. Genomics. 2020. PMID: 32147526 Free article.

9

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability.

Khan A, Umair M, Sharaf RA, Khan MI, Ullah A, Abbas S, Shaheen N, Bilal M, Ahamd F. Khan A, et al. Among authors: abbas s. Hum Genome Var. 2020 Nov 27;7(1):41. doi: 10.1038/s41439-020-00129-3. Hum Genome Var. 2020. PMID: 33298898 Free PMC article.

10

Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.

Waqas A, Nayab A, Shaheen S, Abbas S, Latif M, Rafeeq MM, Al-Dhuayan IS, Alqosaibi AI, Alnamshan MM, Sain ZM, Habib AH, Alam Q, Umair M, Saqib MAN. Waqas A, et al. Among authors: abbas s. Front Genet. 2022 Apr 28;13:878274. doi: 10.3389/fgene.2022.878274. eCollection 2022. Front Genet. 2022. PMID: 35571055 Free PMC article.

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