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Journal of Medical Genetics|January 2, 2025
Sexual dimorphism in SMAD3 pathogenic variant-harbouring individualsJulie Richer, Joe Davis Velchev, Sharan Goobie, et al.Journal of Medical Genetics|March 24, 2025
STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndromeEmma Lafabrie, Maja Vrdoljak Pažur, Jocelyn Laporte, et al.Journal of Medical Genetics|March 13, 2025
Canadian consensus for the assessment and testing of Lynch syndromeMelyssa Aronson, Laura Palma, Kara Semotiuk, et al.Journal of Medical Genetics|March 13, 2025
Whole-exome sequencing reveals sex difference in the genetic architecture of high myopiaXingchen Liu, Jiacheng Liang, Shasha Li, et al.Journal of Medical Genetics|April 8, 2025
Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two familiesPetra Loid, Fan Wang, Otto Lennartsson, et al.Journal of Medical Genetics|December 6, 2024
Tumour spectrum in AKT1-related Proteus syndrome: a systematic review of clinical reports and seriesOlivia M Rostagni, Charlotte Lr Early, Mia B Hodges, et al.Journal of Medical Genetics|December 3, 2024
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlatesSimone Gana, Fulvio D'Abrusco, Roberta Nicotra, et al.Journal of Medical Genetics|November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, et al.Journal of Medical Genetics|December 18, 2024
Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist departmentSinead Horgan, Huafrin Kotwal, Antonetta Malan, et al.Journal of Medical Genetics|December 23, 2024
The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024)Bethany Torr, Nicola Bell, Ruth McCarthy, et al.Pageof 649