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

93 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Gras M, et al. Among authors: keymolen k. J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. J Med Genet. 2024. PMID: 37879892 Review.
Defining the phenotypical spectrum associated with variants in TUBB2A.
Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Bahi-Buisson N, Meuwissen M, Jansen AC, Stouffs K. Brock S, et al. Among authors: keymolen k. J Med Genet. 2021 Jan;58(1):33-40. doi: 10.1136/jmedgenet-2019-106740. Epub 2020 Jun 22. J Med Genet. 2021. PMID: 32571897 Free PMC article.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
Brock S, Laquerriere A, Marguet F, Myers SJ, Hongjie Y, Baralle D, Vanderhasselt T, Stouffs K, Keymolen K, Kim S, Allen J, Shaulsky G, Chelly J, Marcorelle P, Aziza J, Villard L, Sacaze E, de Wit MCY, Wilke M, Mancini GMS, Hehr U, Lim D, Mansour S, Traynelis SF, Beneteau C, Denis-Musquer M, Jansen AC, Fry AE, Bahi-Buisson N. Brock S, et al. Among authors: keymolen k. J Med Genet. 2023 Feb;60(2):183-192. doi: 10.1136/jmedgenet-2021-107971. Epub 2022 Apr 7. J Med Genet. 2023. PMID: 35393335 Free PMC article.
Fetal and neonatal neurogenetics.
Jansen AC, Keymolen K. Jansen AC, et al. Among authors: keymolen k. Handb Clin Neurol. 2019;162:105-132. doi: 10.1016/B978-0-444-64029-1.00005-9. Handb Clin Neurol. 2019. PMID: 31324307 Review.
Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.
De Bruyn C, Vanderhasselt T, Tanyalçin I, Keymolen K, Van Rompaey KL, De Meirleir L, Jansen AC. De Bruyn C, et al. Among authors: keymolen k. Eur J Paediatr Neurol. 2014 May;18(3):420-6. doi: 10.1016/j.ejpn.2013.11.010. Epub 2013 Dec 6. Eur J Paediatr Neurol. 2014. PMID: 24388699 Review.
Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.
Brock S, Michotte A, Doné E, Leus A, Cannie M, De Pierre K, Forsyth R, Stouffs K, Keymolen K, Dimitrov B, Fieuw A, Jansen AC, Van Berkel K. Brock S, et al. Among authors: keymolen k. J Neuropathol Exp Neurol. 2021 Sep 10;80(8):807-810. doi: 10.1093/jnen/nlab026. J Neuropathol Exp Neurol. 2021. PMID: 33846711 No abstract available.
93 results