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Clinical genetics

Showing results (151-160 of 9,194) with videos related to

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Clinical Genetics|December 29, 2019
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 geneCamille Desprairies, Stéphanie Valence, Hélène Maurey, et al.
Clinical Genetics|April 1, 1979
Chromosome 8 abnormalities as components of neoplastic and hematologic disordersV M Riccardi, J Forgason
Clinical Genetics|December 12, 2022
Evaluation of out-of-pocket pay genetic testing in a publicly funded healthcare systemPeter Grant, Courtney B Cook, Sylvie Langlois, et al.
Clinical Genetics|December 12, 2022
Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2Ezgi Mollaoğlu, Dilek Uludağ Alkaya, Ceren Ayça Yıldız, et al.
Clinical Genetics|December 12, 2022
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patientTian Zhu, Hui Li, Xing Wei, et al.
Clinical Genetics|April 2, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variantsEmmanuelle Ranza, Anne Guimier, Alain Verloes, et al.
Clinical Genetics|March 28, 2020
Genetics of feline hypertrophic cardiomyopathyCristina Gil-Ortuño, Patricia Sebastián-Marcos, María Sabater-Molina, et al.
Clinical Genetics|March 31, 2020
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathyQi Wang, Zhenxian Hu, Xingzhi Chang, et al.
Clinical Genetics|January 30, 2020
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotypeGiulia Pascolini, Emanuele Agolini, Antonio Novelli, et al.
Clinical Genetics|March 15, 2020
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosisLine Aagaard Nolting, Charlotte Brasch-Andersen, Helen Cox, et al.
Pageof 920

Showing results (151-160 of 9,194) with videos related to

Sort By:
Pageof 920
Clinical Genetics|December 29, 2019
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 geneCamille Desprairies, Stéphanie Valence, Hélène Maurey, et al.
Clinical Genetics|April 1, 1979
Chromosome 8 abnormalities as components of neoplastic and hematologic disordersV M Riccardi, J Forgason
Clinical Genetics|December 12, 2022
Evaluation of out-of-pocket pay genetic testing in a publicly funded healthcare systemPeter Grant, Courtney B Cook, Sylvie Langlois, et al.
Clinical Genetics|December 12, 2022
Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2Ezgi Mollaoğlu, Dilek Uludağ Alkaya, Ceren Ayça Yıldız, et al.
Clinical Genetics|December 12, 2022
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patientTian Zhu, Hui Li, Xing Wei, et al.
Clinical Genetics|April 2, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variantsEmmanuelle Ranza, Anne Guimier, Alain Verloes, et al.
Clinical Genetics|March 28, 2020
Genetics of feline hypertrophic cardiomyopathyCristina Gil-Ortuño, Patricia Sebastián-Marcos, María Sabater-Molina, et al.
Clinical Genetics|March 31, 2020
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathyQi Wang, Zhenxian Hu, Xingzhi Chang, et al.
Clinical Genetics|January 30, 2020
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotypeGiulia Pascolini, Emanuele Agolini, Antonio Novelli, et al.
Clinical Genetics|March 15, 2020
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosisLine Aagaard Nolting, Charlotte Brasch-Andersen, Helen Cox, et al.
Pageof 920