Khan A - Search Results

1

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families.

Sun L, Khan A, Zhang H, Han S, Habulieti X, Wang R, Zhang X. Sun L, et al. Among authors: khan a. Front Pediatr. 2020 Dec 1;8:585053. doi: 10.3389/fped.2020.585053. eCollection 2020. Front Pediatr. 2020. PMID: 33335874 Free PMC article.

2

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.

Khan A, Han S, Wang R, Ansar M, Ahmad W, Zhang X. Khan A, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e917. doi: 10.1002/mgg3.917. Epub 2019 Aug 6. Mol Genet Genomic Med. 2019. PMID: 31389194 Free PMC article. Clinical Trial.

3

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

4

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: khan mi. 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.

5

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.

Wang R, Han S, Liu H, Khan A, Xiaerbati H, Yu X, Huang J, Zhang X. Wang R, et al. Among authors: khan a. Front Genet. 2019 Oct 29;10:1060. doi: 10.3389/fgene.2019.01060. eCollection 2019. Front Genet. 2019. PMID: 31737043 Free PMC article.

6

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: khan mi. 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.

7

A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family.

Khan A, Wang R, Han S, Umair M, Alshabeeb MA, Ansar M, Ahmad W, Alaamery M, Zhang X. Khan A, et al. Front Pediatr. 2020 Jan 9;7:526. doi: 10.3389/fped.2019.00526. eCollection 2019. Front Pediatr. 2020. PMID: 31998667 Free PMC article.

8

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.

Sun L, Yang X, Khan A, Yu X, Zhang H, Han S, Habulieti X, Sun Y, Wang R, Zhang X. Sun L, et al. Among authors: khan a. Front Med. 2024 Feb;18(1):81-97. doi: 10.1007/s11684-023-1006-x. Epub 2023 Oct 14. Front Med. 2024. PMID: 37837560

9

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.

Khan A, Miao Z, Umair M, Ullah A, Alshabeeb MA, Bilal M, Ahmad F, Rappold GA, Ansar M, Carapito R. Khan A, et al. Genes (Basel). 2020 Aug 31;11(9):1021. doi: 10.3390/genes11091021. Genes (Basel). 2020. PMID: 32878022 Free PMC article.

10

Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.

Younus M, Rasheed M, Lin Z, Asiri SA, Almazni IA, Alshehri MA, Shafiq S, Iqbal I, Khan A, Ullah H, Umair M, Waqas A. Younus M, et al. Among authors: khan a. Mol Syndromol. 2023 Feb;14(1):11-20. doi: 10.1159/000526381. Epub 2022 Sep 30. Mol Syndromol. 2023. PMID: 36777705 Free PMC article.

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