Saadullah Khan - Search Results

Year	Number of Results
2011	3
2012	4
2013	4
2014	2
2015	2
2016	6
2017	7
2018	8
2019	6
2020	4
2021	8
2022	6
2023	7
2024	2

1

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.

Nawaz H, Parveen A, Khan SA, Zalan AK, Khan MA, Muhammad N, Hassib NF, Mostafa MI, Elhossini RM, Roshdy NN, Ullah A, Arif A, Khan S, Ammerpohl O, Wasif N. Nawaz H, et al. Among authors: khan s. Heliyon. 2023 Dec 14;10(1):e23688. doi: 10.1016/j.heliyon.2023.e23688. eCollection 2024 Jan 15. Heliyon. 2023. PMID: 38192829 Free PMC article.

2

Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.

Hussain SI, Muhammad N, Shah SUD, Fardous F, Khan SA, Khan N, Rehman AU, Siddique M, Wasan SA, Niaz R, Ullah H, Khan N, Muhammad N, Mirza MU, Wasif N, Khan S. Hussain SI, et al. Among authors: khan s. BMC Neurol. 2023 Oct 4;23(1):353. doi: 10.1186/s12883-023-03397-y. BMC Neurol. 2023. PMID: 37794328 Free PMC article.

3

Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.

Hussain SI, Muhammad N, Khan N, Khan M, Fardous F, Tahir R, Yasin M, Khan SA, Saleha S, Muhammad N, Wasif N, Khan S. Hussain SI, et al. Among authors: khan s. J Gene Med. 2024 Jan;26(1):e3591. doi: 10.1002/jgm.3591. Epub 2023 Sep 18. J Gene Med. 2024. PMID: 37721116

4

Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.

Liaqat K, Bharadwaj T, Shah K, Nasir A, Acharya A, Khan S, Ullah I, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. Among authors: khan s. Clin Genet. 2023 Oct;104(4):499-501. doi: 10.1111/cge.14390. Epub 2023 Jun 13. Clin Genet. 2023. PMID: 37311648 Free PMC article.

5

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.

Muhammad N, Hussain SI, Rehman ZU, Khan SA, Jan S, Khan N, Muzammal M, Abbasi SW, Kakar N, Rehman ZU, Khan MA, Mirza MU, Muhammad N, Khan S, Wasif N. Muhammad N, et al. Among authors: khan s. Front Neurol. 2023 May 25;14:1168307. doi: 10.3389/fneur.2023.1168307. eCollection 2023. Front Neurol. 2023. PMID: 37305761 Free PMC article.

6

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.

Nawaz H, Mujahid, Khan SA, Bibi F, Waqas A, Bari A, Fardous, Khan N, Muhammad N, Khan A, Paracha SA, Alam Q, Kamal MA, Rafeeq MM, Muhammad N, Haq FU, Khan S, Mahmood A, Khan S, Umair M. Nawaz H, et al. Among authors: khan s. Genes (Basel). 2023 May 19;14(5):1113. doi: 10.3390/genes14051113. Genes (Basel). 2023. PMID: 37239474 Free PMC article.

7

Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.

Khan N, Shah K, Fozia F, Khan SA, Muhammad N, Nasir A, Ahmad I, Rehman ZU, Jan A, Muhammad N, Khan S. Khan N, et al. Among authors: khan s. Int J Dermatol. 2023 May;62(5):672-680. doi: 10.1111/ijd.16614. Epub 2023 Feb 15. Int J Dermatol. 2023. PMID: 36789964

8

The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3).

Rehman AU, Hamid M, Khan SA, Eisa M, Ullah W, Rehman ZU, Khan MA, Basit S, Muhammad N, Khan S, Wasif N. Rehman AU, et al. Among authors: khan s. Genes (Basel). 2022 Dec 6;13(12):2299. doi: 10.3390/genes13122299. Genes (Basel). 2022. PMID: 36553564 Free PMC article.

9

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Lin SJ, et al. Among authors: khan s. Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35815345

10

The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family.

Khan SA, Khan S, Muhammad N, Rehman ZU, Khan MA, Nasir A, Kalsoom UE, Khan AK, Khan H, Wasif N. Khan SA, et al. Among authors: khan s. Front Genet. 2022 Jan 25;12:782653. doi: 10.3389/fgene.2021.782653. eCollection 2021. Front Genet. 2022. PMID: 35145545 Free PMC article.

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