Umm-E-Kalsoom - Search Results

1

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.

Hajra B, Abdullah, Bibi N, Syed F, Ullah A, Ahmad W, Umm-E-Kalsoom. Hajra B, et al. An Bras Dermatol. 2023 Sep-Oct;98(5):580-586. doi: 10.1016/j.abd.2022.07.009. Epub 2023 May 12. An Bras Dermatol. 2023. PMID: 37183149 Free PMC article.

2

Omicron: A new face of COVID-19 pandemic.

Khan A, Bibi S, Kanwal H, Umm-E-Kalsoom, Hussain H. Khan A, et al. Health Sci Rep. 2022 Feb 18;5(2):e526. doi: 10.1002/hsr2.526. eCollection 2022 Mar. Health Sci Rep. 2022. PMID: 35224223 Free PMC article. No abstract available.

3

A novel deletion mutation in EPM2A underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family.

Orooj F, Umm-E-Kalsoom, Zhao X, Ahmad A, Ahmed IN, Faheem M, Hassan MJ, Minasian BA. Orooj F, et al. Neurol Asia. 2021 Jun;26(2):427-433. Neurol Asia. 2021. PMID: 34733372 Free PMC article.

4

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Bibi N, Ullah A, Darwesh L, Khan W, Khan T, Ullah K, Khan B, Ahmad W; Umm-e-Kalsoom. Bibi N, et al. Front Genet. 2020 Jul 21;11:749. doi: 10.3389/fgene.2020.00749. eCollection 2020. Front Genet. 2020. PMID: 32849781 Free PMC article.

5

Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation.

Bilal M, Hayat A, Umair M, Ullah A, Khawaja S, Malik E, Burmeister M, Bibi N, Umm-E-Kalsoom, Memon MI, Basit S, Ahmad W, Khan B. Bilal M, et al. Genet Test Mol Biomarkers. 2020 Sep;24(9):600-607. doi: 10.1089/gtmb.2020.0024. Epub 2020 Aug 7. Genet Test Mol Biomarkers. 2020. PMID: 32762550

6

A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family.

Hussain S, Umm-E-Kalsoom, Ullah I, Liaqat K, Nawaz S, Ahmad W. Hussain S, et al. Genet Test Mol Biomarkers. 2020 Apr;24(4):217-223. doi: 10.1089/gtmb.2019.0203. Epub 2020 Mar 27. Genet Test Mol Biomarkers. 2020. PMID: 32216639

7

Evaluation of diabetes awareness among general population of Bahawalpur, Pakistan.

Masood I, Saleem A, Hassan A, Umm-E-Kalsoom, Zia A, Khan AT. Masood I, et al. Prim Care Diabetes. 2016 Feb;10(1):3-9. doi: 10.1016/j.pcd.2015.06.004. Epub 2015 Jun 29. Prim Care Diabetes. 2016. PMID: 26137919

8

Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes.

Umm-e-Kalsoom, Basit S, Kamran-ul-Hassan Naqvi S, Ansar M, Ahmad W. Umm-e-Kalsoom, et al. Hum Genet. 2012 Mar;131(3):415-22. doi: 10.1007/s00439-011-1085-7. Epub 2011 Aug 30. Hum Genet. 2012. PMID: 21877132

9

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.

Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W. Khan S, et al. Clin Exp Dermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014.x. Epub 2011 Mar 21. Clin Exp Dermatol. 2011. PMID: 21426374

10

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

Basit S, Lee K, Habib R, Chen L, Umm-e-Kalsoom, Santos-Cortez RL, Azeem Z, Andrade P, Ansar M, Ahmad W, Leal SM. Basit S, et al. Hum Genet. 2011 Apr;129(4):379-85. doi: 10.1007/s00439-010-0934-0. Epub 2010 Dec 22. Hum Genet. 2011. PMID: 21181198 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

11 results

Search Page

Filters