Ullah A - Search Results

1

A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.

Ullah A, Raza SI, Ali RH, Naveed AK, Jan A, Rizvi SD, Satti R, Ahmad W. Ullah A, et al. Clin Exp Dermatol. 2015 Jan;40(1):78-84. doi: 10.1111/ced.12457. Epub 2014 Sep 23. Clin Exp Dermatol. 2015. PMID: 25251037

2

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

Ahmad F, Ansar M, Mehmood S, Izoduwa A, Lee K, Nasir A, Abrar M, Mehmood S, Ullah A, Aziz A; University of Washington Center for Mendelian Genomics; Smith JD, Shendure J, Bamshad MJ, Nicekrson DA, Santos-Cortez RL, Leal SM, Ahmad W. Ahmad F, et al. Among authors: ullah a. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e210-e213. doi: 10.1111/jdv.13540. Epub 2015 Dec 21. J Eur Acad Dermatol Venereol. 2016. PMID: 26691440 Free PMC article. No abstract available.

3

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.

Ullah A, Kalsoom UE, Umair M, John P, Ansar M, Basit S, Ahmad W. Ullah A, et al. Clin Genet. 2017 Mar;91(3):494-498. doi: 10.1111/cge.12822. Epub 2016 Jul 12. Clin Genet. 2017. PMID: 27324866

4

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: ullah a. Clin Genet. 2018 Mar;93(3):699-702. doi: 10.1111/cge.13152. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29023680

5

Evaluation of chromosomal abnormalities and Y chromosome microdeletion in infertile males of 10 families.

Khan MJ, Ullah A, Nazli R, Ahmed J. Khan MJ, et al. Among authors: ullah a. J Pak Med Assoc. 2019 Apr;69(4):567-571. J Pak Med Assoc. 2019. PMID: 31000864

6

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism.

Aslam M, Ullah A, Paramasivam N, Kandasamy N, Naureen S, Badshah M, Khan K, Wajid M, Abbasi R, Eils R, Brockmann MA, Schlesner M, Ahmad N, von Engelhardt J. Aslam M, et al. Among authors: ullah a. Sci Rep. 2019 Sep 19;9(1):13576. doi: 10.1038/s41598-019-50102-6. Sci Rep. 2019. PMID: 31537871 Free PMC article.

7

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. J Gene Med. 2022 Apr;24(4):e3412. doi: 10.1002/jgm.3412. Epub 2022 Feb 7. J Gene Med. 2022. PMID: 35075722

8

Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease.

Aslam M, Kandasamy N, Ullah A, Paramasivam N, Öztürk MA, Naureen S, Arshad A, Badshah M, Khan K, Wajid M, Abbasi R, Ilyas M, Eils R, Schlesner M, Wade RC, Ahmad N, von Engelhardt J. Aslam M, et al. Among authors: ullah a. NPJ Genom Med. 2021 Jan 5;6(1):2. doi: 10.1038/s41525-020-00163-8. NPJ Genom Med. 2021. PMID: 33402667 Free PMC article.

9

Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives.

Khan MJ, Ullah A, Basit S. Khan MJ, et al. Among authors: ullah a. Appl Clin Genet. 2019 Dec 24;12:249-260. doi: 10.2147/TACG.S200341. eCollection 2019. Appl Clin Genet. 2019. PMID: 31920361 Free PMC article. Review.

10

Role of Lactobacillus plantarum 299v versus Placebo in symptomatic improvement of irritable bowel syndrome patients.

Moeen-Ul-Haq; Babar AN, Hassan MK, Ullah F, Ullah A. Moeen-Ul-Haq, et al. Among authors: ullah f, ullah a. J Pak Med Assoc. 2022 Mar;72(3):404-408. doi: 10.47391/JPMA.0758. J Pak Med Assoc. 2022. PMID: 35320214 Free article. Clinical Trial.

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