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Page 1
Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project.
Del Rosario MC, Walmsley SA, Harrison BW, Stephens CT, Zettler B, Rivera-Cruz G, Agrawal P, Brower A, Chigbu S, Christensen KD, Genetti CA, Givens R, Gold NB, Reeves IV, Schichter I, Shariat H, Simon S, Smith HS, Uveges M, Green RC, Holm IA, Pereira S. Del Rosario MC, et al. Among authors: rivera cruz g. medRxiv [Preprint]. 2024 Oct 7:2024.10.01.24314717. doi: 10.1101/2024.10.01.24314717. medRxiv. 2024. PMID: 39417101 Free PMC article. Preprint.
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe F, Delanghe SE, van den Ende J, Beyltjens T, Scimone ER, Lindsay ME, Schimmenti LA, Hinze AM, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir Ş, Arslan Ateş E, Zenker M, Rohanizadegan M, Rivera-Cruz G, Douzgou S; Myhre Syndrome Foundation; Lin AE, Callewaert B. Vanbelleghem E, et al. Among authors: rivera cruz g. Eur J Hum Genet. 2024 Sep 10. doi: 10.1038/s41431-024-01690-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39256535 No abstract available.
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe F, Delanghe SE, van den Ende J, Beyltjens T, Scimone ER, Lindsay ME, Schimmenti LA, Hinze AM, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir Ş, Arslan Ateş E, Zenker M, Rohanizadegan M, Rivera-Cruz G, Douzgou S; Myhre Syndrome Foundation; Lin AE, Callewaert B. Vanbelleghem E, et al. Among authors: rivera cruz g. Eur J Hum Genet. 2024 Sep;32(9):1086-1094. doi: 10.1038/s41431-024-01664-1. Epub 2024 Jul 12. Eur J Hum Genet. 2024. PMID: 38997468
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Derks B, Rivera-Cruz G, Hagen-Lillevik S, Vos EN, Demirbas D, Lai K, Treacy EP, Levy HL, Wilkins-Haug LE, Rubio-Gozalbo ME, Berry GT. Derks B, et al. Among authors: rivera cruz g. Hum Reprod Update. 2023 Mar 1;29(2):246-258. doi: 10.1093/humupd/dmac041. Hum Reprod Update. 2023. PMID: 36512573 Free PMC article.
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