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Year Number of Results
1999 1
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2003 3
2004 3
2006 3
2007 1
2008 2
2011 1
2012 4
2013 5
2014 4
2015 4
2016 3
2017 1
2018 1
2020 1
2022 4
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2025 4

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46 results

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Page 1
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, Visser… See abstract for full author list ➔ Rots D, et al. Among authors: hendriks y. Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013459 Free PMC article.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Delanne J, Lecat M, Blackburn PR, Klee EW, Stumpel CTRM, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner SA, Lyons MJ, Pöe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Delanne J, et al. Among authors: hendriks ymc. Eur J Med Genet. 2023 Jan;66(1):104670. doi: 10.1016/j.ejmg.2022.104670. Epub 2022 Nov 19. Eur J Med Genet. 2023. PMID: 36414205 Review.
Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Joustra SD, Joustra SD, Isik E, Wit JM, Catli G, Anik A, Haliloglu B, Kandemir N, Ozsu E, Hendriks YMC, de Bruin C, Kant SG, Campos-Barros A, Challis RC, Parry D, Harley ME, Jackson A, Losekoot M, van Duyvenvoorde HA. Joustra SD, et al. Among authors: hendriks ymc. Horm Res Paediatr. 2025;98(5):532-542. doi: 10.1159/000539696. Epub 2024 Jun 5. Horm Res Paediatr. 2025. PMID: 38838658 Free PMC article.
Growth hormone treatment adjusted for growth hormone sensitivity in idiopathic short stature.
Kruijsen AR, Wit JM, de Groote K, Punt LD, van Trotsenburg ASP, Pijnenburg-Kleizen KJ, Bocca G, Berkenbosch L, van Setten PA, Claahsen-van der Grinten HL, van der Kaay DCM, Schott N, van Tellingen V, van Mil EGAH, van der Heyden JC, Brandsma AE, Hendriks Y, Losekoot M, van Duyvenvoorde HA, Hokken-Koelega ACS, Renes JS, de Bruin C, Joustra SD. Kruijsen AR, et al. Among authors: hendriks y. Eur J Endocrinol. 2025 Jun 30;193(1):156-166. doi: 10.1093/ejendo/lvaf137. Eur J Endocrinol. 2025. PMID: 40621613
Clinical characteristics and response to growth hormone treatment in 27 children with heterozygous NPR2 variants: real-world data.
Renes JS, Reedijk AMJ, Hokken-Koelega ACS, Hendriks YMC, Bakker B, Boot AM, van Setten PA, van der Kaay DCM, van Duyvenvoorde HA, Nievelstein RAJ, Losekoot M, de Bruin C. Renes JS, et al. Among authors: hendriks ymc. J Clin Endocrinol Metab. 2025 May 27:dgaf309. doi: 10.1210/clinem/dgaf309. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 40424589
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Mericq V, Huang-Doran I, Al-Naqeb D, Basaure J, Castiglioni C, de Bruin C, Hendriks Y, Bertini E, Alkuraya FS, Losekoot M, Al-Rubeaan K, Semple RK, Wit JM. Mericq V, et al. Among authors: hendriks y. Eur J Endocrinol. 2022 Mar 23;186(5):543-552. doi: 10.1530/EJE-21-0609. Eur J Endocrinol. 2022. PMID: 35234134 Free PMC article.
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Panneman DM, Wortmann SB, Haaxma CA, van Hasselt PM, Wolf NI, Hendriks Y, Küsters B, van Emst-de Vries S, van de Westerlo E, Koopman WJH, Wintjes L, van den Brandt F, de Vries M, Lefeber DJ, Smeitink JAM, Rodenburg RJ. Panneman DM, et al. Among authors: hendriks y. Clin Genet. 2020 Apr;97(4):556-566. doi: 10.1111/cge.13706. Epub 2020 Jan 30. Clin Genet. 2020. PMID: 31957011 Free PMC article.
46 results