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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. 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.
[Genetic obesity: new diagnostic options].
de Vries TI, Alsters SI, Kleinendorst L, van Haaften G, van der Zwaag B, Van Haelst MM. de Vries TI, et al. Among authors: van haelst mm, van der zwaag b, van haaften g. Ned Tijdschr Geneeskd. 2017;161:D688. Ned Tijdschr Geneeskd. 2017. PMID: 28351432 Dutch.
Young girl with severe early-onset obesity and hyperphagia.
Kleinendorst L, van Haelst MM, van den Akker ELT. Kleinendorst L, et al. Among authors: van haelst mm, van den akker elt. BMJ Case Rep. 2017 Sep 25;2017:bcr2017221067. doi: 10.1136/bcr-2017-221067. BMJ Case Rep. 2017. PMID: 28951511 Free PMC article.
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
Kleinendorst L, Massink MPG, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, Janssen ICM, Meijers-Heijboer HJ, Knoers NVAM, Ploos van Amstel HK, van Rossum EFC, van den Akker ELT, van Haaften G, van der Zwaag B, van Haelst MM. Kleinendorst L, et al. Among authors: van rossum efc, van haelst mm, van der zwaag b, van haaften g, van der baan slootweg oh, van den akker elt. J Med Genet. 2018 Sep;55(9):578-586. doi: 10.1136/jmedgenet-2018-105315. Epub 2018 Jul 3. J Med Genet. 2018. PMID: 29970488
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Stokman MF, van der Zwaag B, van de Kar NCAJ, van Haelst MM, van Eerde AM, van der Heijden JW, Kroes HY, Ippel E, Schulp AJA, van Gassen KL, van Rooij IALM, Giles RH, Beales PL, Roepman R, Arts HH, Bongers EMHF, Renkema KY, Knoers NVAM, van Reeuwijk J, Lilien MR. Stokman MF, et al. Among authors: van de kar ncaj, van rooij ialm, van der heijden jw, van haelst mm, van reeuwijk j, van der zwaag b, van eerde am, van gassen kl. Pediatr Nephrol. 2018 Oct;33(10):1701-1712. doi: 10.1007/s00467-018-3958-7. Epub 2018 Jul 5. Pediatr Nephrol. 2018. PMID: 29974258 Free PMC article.
The pathogenesis of obesity.
Oussaada SM, van Galen KA, Cooiman MI, Kleinendorst L, Hazebroek EJ, van Haelst MM, Ter Horst KW, Serlie MJ. Oussaada SM, et al. Among authors: van galen ka, van haelst mm. Metabolism. 2019 Mar;92:26-36. doi: 10.1016/j.metabol.2018.12.012. Epub 2019 Jan 9. Metabolism. 2019. PMID: 30639246 Review.
A comprehensive diagnostic approach to detect underlying causes of obesity in adults.
van der Valk ES, van den Akker ELT, Savas M, Kleinendorst L, Visser JA, Van Haelst MM, Sharma AM, van Rossum EFC. van der Valk ES, et al. Among authors: van haelst mm, van rossum efc, van den akker elt. Obes Rev. 2019 Jun;20(6):795-804. doi: 10.1111/obr.12836. Epub 2019 Mar 1. Obes Rev. 2019. PMID: 30821060 Free PMC article. Review.
156 results