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Clinical genetics

Showing results (191-200 of 7,173) with videos related to

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Clinical Genetics|October 30, 2023
Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP geneJoshua Chin Ern Ooi, Amelia Azman, Mei-Yan Chan, et al.
Clinical Genetics|September 13, 2023
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiencyJair Tenorio-Castano, Ángela Sánchez-Algaba Gómez, Mónica Coronado, et al.
Clinical Genetics|August 31, 2023
A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypesLeon Peifer-Weiß, Mazen Kurban, Céline David, et al.
Clinical Genetics|August 9, 2023
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotypeDomizia Pasquetti, Federica Francesca L'Erario, Giuseppe Marangi, et al.
Clinical Genetics|August 1, 2023
Genetic findings in Czech patients with limb girdle muscular dystrophyJana Zídková, Tereza Kramářová, Johana Kopčilová, et al.
Clinical Genetics|August 24, 2023
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndromeDominyka Batkovskyte, Maya Komatsu, Anna Hammarsjö, et al.
Clinical Genetics|October 20, 2023
Perspectives of carriers of X-linked retinal diseases on genetic testing and gene therapy: A global surveySena A Gocuk, Thomas L Edwards, Jasleen K Jolly, et al.
Clinical Genetics|July 17, 2023
Congenital heart defects in CTNNB1 syndrome: Raising clinical awarenessLorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, et al.
Clinical Genetics|July 14, 2023
Genotype-phenotype analysis of selective failure of tooth eruption-A systematic reviewXinyue Guo, Xiaohong Duan
Clinical Genetics|July 26, 2023
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndromeNewell Belnap, Aiai Price-Smith, Keri Ramsey, et al.
Pageof 718

Showing results (191-200 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|October 30, 2023
Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP geneJoshua Chin Ern Ooi, Amelia Azman, Mei-Yan Chan, et al.
Clinical Genetics|September 13, 2023
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiencyJair Tenorio-Castano, Ángela Sánchez-Algaba Gómez, Mónica Coronado, et al.
Clinical Genetics|August 31, 2023
A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypesLeon Peifer-Weiß, Mazen Kurban, Céline David, et al.
Clinical Genetics|August 9, 2023
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotypeDomizia Pasquetti, Federica Francesca L'Erario, Giuseppe Marangi, et al.
Clinical Genetics|August 1, 2023
Genetic findings in Czech patients with limb girdle muscular dystrophyJana Zídková, Tereza Kramářová, Johana Kopčilová, et al.
Clinical Genetics|August 24, 2023
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndromeDominyka Batkovskyte, Maya Komatsu, Anna Hammarsjö, et al.
Clinical Genetics|October 20, 2023
Perspectives of carriers of X-linked retinal diseases on genetic testing and gene therapy: A global surveySena A Gocuk, Thomas L Edwards, Jasleen K Jolly, et al.
Clinical Genetics|July 17, 2023
Congenital heart defects in CTNNB1 syndrome: Raising clinical awarenessLorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, et al.
Clinical Genetics|July 14, 2023
Genotype-phenotype analysis of selective failure of tooth eruption-A systematic reviewXinyue Guo, Xiaohong Duan
Clinical Genetics|July 26, 2023
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndromeNewell Belnap, Aiai Price-Smith, Keri Ramsey, et al.
Pageof 718