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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

28 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Among authors: gheldof a. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 Free PMC article.
I-PV: a CIRCOS module for interactive protein sequence visualization.
Tanyalcin I, Al Assaf C, Gheldof A, Stouffs K, Lissens W, Jansen AC. Tanyalcin I, et al. Among authors: gheldof a. Bioinformatics. 2016 Feb 1;32(3):447-9. doi: 10.1093/bioinformatics/btv579. Epub 2015 Oct 10. Bioinformatics. 2016. PMID: 26454277
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.
Stouffs K, Gheldof A, Tournaye H, Vandermaelen D, Bonduelle M, Lissens W, Seneca S. Stouffs K, et al. Among authors: gheldof a. Biomed Res Int. 2016;2016:6191307. doi: 10.1155/2016/6191307. Epub 2016 Jan 26. Biomed Res Int. 2016. PMID: 26925412 Free PMC article.
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
Vandervore L, Stouffs K, Tanyalçin I, Vanderhasselt T, Roelens F, Holder-Espinasse M, Jørgensen A, Pepin MG, Petit F, Khau Van Kien P, Bahi-Buisson N, Lissens W, Gheldof A, Byers PH, Jansen AC. Vandervore L, et al. Among authors: gheldof a. J Med Genet. 2017 Jun;54(6):432-440. doi: 10.1136/jmedgenet-2016-104421. Epub 2017 Mar 3. J Med Genet. 2017. PMID: 28258187
Are AZFb deletions always incompatible with sperm production?
Stouffs K, Vloeberghs V, Gheldof A, Tournaye H, Seneca S. Stouffs K, et al. Among authors: gheldof a. Andrology. 2017 Jul;5(4):691-694. doi: 10.1111/andr.12350. Epub 2017 Apr 10. Andrology. 2017. PMID: 28395120 Free article.
Expanding the clinical spectrum of biallelic ZNF335 variants.
Stouffs K, Stergachis AB, Vanderhasselt T, Dica A, Janssens S, Vandervore L, Gheldof A, Bodamer O, Keymolen K, Seneca S, Liebaers I, Jayaraman D, Hill HE, Partlow JN, Walsh CA, Jansen AC. Stouffs K, et al. Among authors: gheldof a. Clin Genet. 2018 Aug;94(2):246-251. doi: 10.1111/cge.13260. Epub 2018 May 3. Clin Genet. 2018. PMID: 29652087 Free PMC article.
Rare genetic variants potentially involved in ovarian hyperstimulation syndrome.
Stouffs K, Daelemans S, Santos-Ribeiro S, Seneca S, Gheldof A, Gürbüz AS, De Vos M, Tournaye H, Blockeel C. Stouffs K, et al. Among authors: gheldof a. J Assist Reprod Genet. 2019 Mar;36(3):491-497. doi: 10.1007/s10815-018-1372-5. Epub 2018 Nov 27. J Assist Reprod Genet. 2019. PMID: 30483911 Free PMC article.
28 results