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

151 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. Aerden M, et al. Among authors: van haelst m, van esch h. Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36747006 Free PMC article.
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
Lipstein N, Verhoeven-Duif NM, Michelassi FE, Calloway N, van Hasselt PM, Pienkowska K, van Haaften G, van Haelst MM, van Empelen R, Cuppen I, van Teeseling HC, Evelein AM, Vorstman JA, Thoms S, Jahn O, Duran KJ, Monroe GR, Ryan TA, Taschenberger H, Dittman JS, Rhee JS, Visser G, Jans JJ, Brose N. Lipstein N, et al. Among authors: van empelen r, van hasselt pm, van haelst mm, van teeseling hc, van haaften g. J Clin Invest. 2017 Mar 1;127(3):1005-1018. doi: 10.1172/JCI90259. Epub 2017 Feb 13. J Clin Invest. 2017. PMID: 28192369 Free PMC article.
Management of prenatally detected trisomy 8 mosaicism.
van Haelst MM, Van Opstal D, Lindhout D, Los FJ. van Haelst MM, et al. Among authors: van opstal d. Prenat Diagn. 2001 Dec;21(12):1075-8. doi: 10.1002/pd.215. Prenat Diagn. 2001. PMID: 11746167
Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.
Vos N, Oussaada SM, Cooiman MI, Kleinendorst L, Ter Horst KW, Hazebroek EJ, Romijn JA, Serlie MJ, Mannens MMAM, van Haelst MM. Vos N, et al. Among authors: van haelst mm. Curr Diab Rep. 2020 Jul 30;20(9):44. doi: 10.1007/s11892-020-01327-7. Curr Diab Rep. 2020. PMID: 32729070 Free PMC article. Review.
Fetal methotrexate syndrome: A systematic review of case reports.
Verberne EA, de Haan E, van Tintelen JP, Lindhout D, van Haelst MM. Verberne EA, et al. Among authors: van haelst mm, van tintelen jp. Reprod Toxicol. 2019 Aug;87:125-139. doi: 10.1016/j.reprotox.2019.05.066. Epub 2019 Jun 8. Reprod Toxicol. 2019. PMID: 31181251 Free article.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B, Levy MA, Kerkhof J, Aref-Eshghi E, Schenkel L, Stuart A, McConkey H, Henneman P, Venema A, Schwartz CE, Stevenson RE, Skinner SA, DuPont BR, Fletcher RS, Balci TB, Siu VM, Granadillo JL, Masters J, Kadour M, Friez MJ, van Haelst MM, Mannens MMAM, Louie RJ, Lee JA, Tedder ML, Alders M. Sadikovic B, et al. Among authors: van haelst mm. Genet Med. 2021 Nov;23(11):2228. doi: 10.1038/s41436-021-01130-z. Genet Med. 2021. PMID: 33637969 Free PMC article. No abstract available.
Non-invasive sources of cells with primary cilia from pediatric and adult patients.
Ajzenberg H, Slaats GG, Stokman MF, Arts HH, Logister I, Kroes HY, Renkema KY, van Haelst MM, Terhal PA, van Rooij IA, Keijzer-Veen MG, Knoers NV, Lilien MR, Jewett MA, Giles RH. Ajzenberg H, et al. Among authors: van rooij ia, van haelst mm. Cilia. 2015 Jun 1;4:8. doi: 10.1186/s13630-015-0017-x. eCollection 2015. Cilia. 2015. PMID: 26034581 Free PMC article.
151 results