Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

134 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
THBS1 is a new autosomal recessive non-syndromic hearing impairment gene.
Bharadwaj T, Acharya A, Khan FU, Khan S, Ullah I, Schrauwen I, Ahmad W, Leal SM. Bharadwaj T, et al. Among authors: schrauwen i. BMC Med Genomics. 2024 Dec 18;17(1):291. doi: 10.1186/s12920-024-02060-w. BMC Med Genomics. 2024. PMID: 39696404 Free PMC article.
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM. Santos-Cortez RLP, et al. Among authors: schrauwen i. Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22. Hum Genet. 2018. PMID: 30167849 Free PMC article.
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. Among authors: schrauwen i. J Hum Genet. 2018 Nov;63(11):1099-1107. doi: 10.1038/s10038-018-0502-3. Epub 2018 Sep 3. J Hum Genet. 2018. PMID: 30177809 Free PMC article.
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM. Ullah I, et al. Among authors: schrauwen i. Hum Genet. 2019 Jun;138(6):593-600. doi: 10.1007/s00439-019-02000-0. Epub 2019 Apr 13. Hum Genet. 2019. PMID: 30982135 Free PMC article.
134 results