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132 results

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Page 1
Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao.
Verberne EA, Lo-A-Njoe SM, van Ginkel M, Zwolsman J, Nikkels S, Clement L, de Vroomen M, Wever MLG, Arends E, Holtsema H, Hajenius PJ, Moreta D, Ecury-Goossen GM, Mannens MMAM, de Walle HEK, Bergman JEH, van Haelst MM. Verberne EA, et al. Among authors: van haelst mm, van ginkel m. Birth Defects Res. 2023 Apr 1;115(6):595-604. doi: 10.1002/bdr2.2153. Epub 2023 Feb 9. Birth Defects Res. 2023. PMID: 36757056
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.
van der Laan L, Rooney K, Haghshenas S, Silva A, McConkey H, Relator R, Levy MA, Valenzuela I, Trujillano L, Lasa-Aranzasti A, Campos B, Castells N, Verberne EA, Maas S, Alders M, Mannens MMAM, van Haelst MM, Sadikovic B, Henneman P. van der Laan L, et al. Among authors: van haelst mm. Int J Mol Sci. 2023 Sep 18;24(18):14240. doi: 10.3390/ijms241814240. Int J Mol Sci. 2023. PMID: 37762546 Free PMC article.
Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review.
Kwetsie H, van Schaijk M, Van Der Lee S, Maes-Festen D, Ten Hoopen LW, van Haelst MM, Coesmans M, Van Den Berg E, De Wit MCY, Pijnenburg Y, Aronica E, Boot E, Van Eeghen AM. Kwetsie H, et al. Among authors: van schaijk m, van haelst mm, van den berg e, van eeghen am, van der lee s. Neurology. 2024 Jun 11;102(11):e209413. doi: 10.1212/WNL.0000000000209413. Epub 2024 May 17. Neurology. 2024. PMID: 38759134 Free PMC article.
Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion.
Jaspers Faijer-Westerink H, von Scheibler ENMM, van Rossum EFC, van Haelst MM, Vingerhoets C, van Amelsvoort TAMJ, van Eeghen AM, Boot E. Jaspers Faijer-Westerink H, et al. Among authors: van haelst mm. Int J Obes (Lond). 2024 Nov 30. doi: 10.1038/s41366-024-01685-2. Online ahead of print. Int J Obes (Lond). 2024. PMID: 39616274
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
van der Laan L, Silva A, Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, Alanay Y, Bhai P, Brusco A, de Munnik S, de Vries BBA, Vega AD, Engelen M, Herkert JC, Hochstenbach R, Hopman S, Kant SG, Kira R, Kato M, Keren B, Kroes HY, Levy MA, Lock-Hock N, Maas SM, Mancini GMS, Marcelis C, Matsumoto N, Mizuguchi T, Mussa A, Mignot C, Närhi A, Nordgren A, Pfundt R, Polstra AM, Trajkova S, van Bever Y, José van den Boogaard M, van der Smagt JJ, Barakat TS, Alders M, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: van haelst mm. HGG Adv. 2025 Jan 9;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Epub 2024 Nov 4. HGG Adv. 2025. PMID: 39501558 Free PMC article.
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
van der Sluijs PJ, Moutton S, Dingemans AJM, Weis D, Levy MA, Boycott KM, Arberas C, Baldassarri M, Beneteau C, Brusco A, Coutton C, Dabir T, Dentici ML, Devriendt K, Faivre L, van Haelst MM, Jizi K, Kempers MJ, Kerkhof J, Kharbanda M, Lachlan K, Marle N, McConkey H, Mencarelli MA, Mowat D, Niceta M, Nicolas C, Novelli A, Orlando V, Pichon O, Rankin J, Relator R, Ropers FG, Rosenfeld JA, Sachdev R, Sandaradura SA, Shukarova-Angelovska E, Steenbeek D, Tartaglia M, Tedder MA, Trajkova S, Winer N, Woods J, de Vries BBA, Sadikovic B, Alders M, Santen GWE. van der Sluijs PJ, et al. Among authors: van haelst mm. Genet Med. 2025 Jan;27(1):101283. doi: 10.1016/j.gim.2024.101283. Epub 2024 Sep 28. Genet Med. 2025. PMID: 39355979 Free article.
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.
Müller AR, Boot E, Notermans SB, Schuengel C, Henneman L, Cornel MC, van Haelst MM, Alders M, van Karnebeek CDM, Bijl B, Wijburg FA, van Eeghen AM. Müller AR, et al. Among authors: van haelst mm. Orphanet J Rare Dis. 2024 Sep 16;19(1):346. doi: 10.1186/s13023-024-03323-6. Orphanet J Rare Dis. 2024. PMID: 39285396 Free PMC article.
132 results