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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A. 2021 Nov;185(11):3446-3458. doi: 10.1002/ajmg.a.62465. Epub 2021 Aug 26.
Am J Med Genet A. 2021.
PMID: 34436830
Free article.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B.
Cuinat S, et al. Among authors: dykzeul n.
Genet Med. 2022 Aug;24(8):1774-1780. doi: 10.1016/j.gim.2022.04.011. Epub 2022 May 14.
Genet Med. 2022.
PMID: 35567594
Free article.
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Proposed use of entrustable professional activities (EPAs) in genetic counseling for clinical training and assessment.
Hanson-Kahn A, Rowe-Teeter C, Siskind C, Dykzeul N.
Hanson-Kahn A, et al. Among authors: dykzeul n.
J Genet Couns. 2024 Feb;33(1):164-167. doi: 10.1002/jgc4.1871. Epub 2024 Feb 14.
J Genet Couns. 2024.
PMID: 38356180
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Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Morison LD, van Reyk O, Forbes E, Rouxel F, Faivre L, Bruinsma F, Vincent M, Jacquemont ML, Dykzeul NL, Geneviève D, Amor DJ, Morgan AT.
Morison LD, et al. Among authors: dykzeul nl.
Eur J Hum Genet. 2023 Dec 8. doi: 10.1038/s41431-023-01515-5. Online ahead of print.
Eur J Hum Genet. 2023.
PMID: 38066173
No abstract available.
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Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, Maron J, Davis J, Del Campo M.
Wigby K, et al. Among authors: dykzeul n.
Am J Med Genet A. 2023 Apr;191(4):930-940. doi: 10.1002/ajmg.a.63097. Epub 2023 Jan 18.
Am J Med Genet A. 2023.
PMID: 36651673
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CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Morison LD, van Reyk O, Forbes E, Rouxel F, Faivre L, Bruinsma F, Vincent M, Jacquemont ML, Dykzeul NL, Geneviève D, Amor DJ, Morgan AT.
Morison LD, et al. Among authors: dykzeul nl.
Eur J Hum Genet. 2023 Jul;31(7):793-804. doi: 10.1038/s41431-022-01275-8. Epub 2023 Jan 4.
Eur J Hum Genet. 2023.
PMID: 36599938
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