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European Journal of Human Genetics : EJHG|October 8, 2009
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotypeBregje W M van Bon, David A Koolen, Louise Brueton, et al.European Journal of Human Genetics : EJHG|February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndromeCéline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendationsEric Lee, Trang Le, Ying Zhu, et al.British Journal of Haematology|May 29, 2024
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variantsVeysel Gök, Göksel Leblebisatan, Dilek Gürlek Gökçebay, et al.American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.HGG Advances|April 8, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseAlka Malhotra, Erin Thorpe, Alison J Coffey, et al.American Journal of Human Genetics|June 6, 2024
The impact of clinical genome sequencing in a global population with suspected rare genetic diseaseErin Thorpe, Taylor Williams, Chad Shaw, et al.The Journal of Experimental Medicine|April 20, 2022
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotesPaul Bastard, Kuang-Chih Hsiao, Qian Zhang, et al.Journal of Human Genetics|September 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patientsFutoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, et al.Nature Genetics|June 12, 2026
A progeria syndrome links DNA hypermethylation to age-related pathologyDan Sarni, Gráinne Neary, Paula L Carroll, et al.Pageof 7