Nawaz S - Search Results

1

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

2

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.

Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. Among authors: nawaz s. J Hum Genet. 2020 Jan;65(2):187-192. doi: 10.1038/s10038-019-0691-4. Epub 2019 Oct 28. J Hum Genet. 2020. PMID: 31656313 Free PMC article.

3

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.

Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. Among authors: nawaz s. J Hum Genet. 2022 Mar;67(3):181. doi: 10.1038/s10038-021-00951-9. J Hum Genet. 2022. PMID: 34526652 Free PMC article. No abstract available.

4

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Ahmad S, Ali MZ, Abbasi SW, Abbas S, Ahmed I, Abbas S, Nawaz S, Ziab M, Ahmed I, Fakhro KA, Khan MA, Akil AA. Ahmad S, et al. Among authors: nawaz s. Front Endocrinol (Lausanne). 2023 Mar 7;14:1066182. doi: 10.3389/fendo.2023.1066182. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36960394 Free PMC article.

5

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

Khan FU, Khan H, Ullah K, Nawaz S, Abdullah, Khan MJ, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan IU, Ali RH, Hasni MS, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack TB, Ji W, Lakhani SA, Ansar M, Ahmad W. Khan FU, et al. Among authors: nawaz s. Clin Genet. 2024 Sep;106(3):347-353. doi: 10.1111/cge.14550. Epub 2024 May 22. Clin Genet. 2024. PMID: 38774940

6

Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome.

Zehri Z, Khan H, Ahmed S, Khan MJ, Shahwani NA, Nawaz S, Umair M. Zehri Z, et al. Among authors: nawaz s. Mol Syndromol. 2024 Aug;15(4):269-274. doi: 10.1159/000536016. Epub 2024 Feb 8. Mol Syndromol. 2024. PMID: 39119445 Free article.

7

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

Paracha SA, Nawaz S, Tahir Sarwar M, Shaheen A, Zaman G, Ahmed J, Shah F, Khwaja S, Jan A, Khan N, Kamal MA, Alam Q, Abbas S, Farman S, Waqas A, Alkathiri A, Hamadi A, Santoni F, Ullah N, Khalid B, Antonarakis SE, Fakhro KA, Umair M, Ansar M. Paracha SA, et al. Among authors: nawaz s. Front Med (Lausanne). 2024 Aug 30;11:1424753. doi: 10.3389/fmed.2024.1424753. eCollection 2024. Front Med (Lausanne). 2024. PMID: 39281811 Free PMC article.

8

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. Among authors: nawaz s. 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

9

A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.

Abdullah, Shah PW, Nawaz S, Hussain S, Ullah A, Basit S, Ahmad W. Abdullah, et al. Among authors: nawaz s. Mol Biol Rep. 2020 Sep;47(9):7083-7088. doi: 10.1007/s11033-020-05774-z. Epub 2020 Sep 4. Mol Biol Rep. 2020. PMID: 32886330

10

Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.

Khan H, Chong AEQ, Bilal M, Nawaz S, Abdullah, Abbasi S, Hussain A, Hussain S, Ullah I, Ali H, Xue S, Ahmad W. Khan H, et al. Among authors: nawaz s. J Hum Genet. 2022 May;67(5):253-259. doi: 10.1038/s10038-021-00995-x. Epub 2021 Dec 3. J Hum Genet. 2022. PMID: 34857885

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