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European Journal of Endocrinology|October 19, 2012
Long-term effects of previous oxandrolone treatment in adult women with Turner syndromeKim Freriks, Theo C J Sas, Maaike A F Traas, et al.Human Genetics|March 21, 2020
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21Lianne C Krab, Iñigo Marcos-Alcalde, Melissa Assaf, et al.Clinical Genetics|April 9, 2020
Primrose syndrome: Characterization of the phenotype in 42 patientsDaniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, et al.Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|August 19, 2014
Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatmentEva J J Verver, Kim Freriks, Theo C J Sas, et al.The Journal of Clinical Endocrinology and Metabolism|January 12, 2010
Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndromeLeonie A Menke, Theo C J Sas, Sabine M P F de Muinck Keizer-Schrama, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2022
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signatureFlavien Rouxel, Raissa Relator, Jennifer Kerkhof, et al.HGG Advances|March 30, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.Journal of Medical Genetics|June 25, 2025
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGSYordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau, et al.American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.Pageof 16