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Clinical genetics

Showing results (281-290 of 7,173) with videos related to

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Clinical Genetics|February 19, 2020
Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defectStine W Mathorne, Pernille Ravn, Dorte Hansen, et al.
Clinical Genetics|February 23, 2020
Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophyAnna Greco, Remko Goossens, Baziel van Engelen, et al.
Clinical Genetics|February 23, 2020
upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohortsTina D Hjortshøj, Anna R Sørensen, Melodi Yusibova, et al.
Clinical Genetics|February 14, 2020
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohortOwen M Siggs, Mona S Awadalla, Emmanuelle Souzeau, et al.
Clinical Genetics|February 14, 2020
New missense variants in RELT causing hypomineralised amelogenesis imperfectaGeorgios Nikolopoulos, Claire E L Smith, Steven J Brookes, et al.
Clinical Genetics|August 1, 1988
Neural tube defects and omphalocele in trisomy 18C A Moore, J P Harmon, L M Padilla, et al.
Clinical Genetics|December 18, 2019
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disabilityLise Larcher, Julien Buratti, Bénédicte Héron-Longe, et al.
Clinical Genetics|November 3, 2020
A review on age-related cancer risks in PTEN hamartoma tumor syndromeLinda A J Hendricks, Nicoline Hoogerbrugge, Janneke H M Schuurs-Hoeijmakers, et al.
Clinical Genetics|November 1, 1987
Prader-Willi syndrome in two siblings: one with normal karyotype, one with a terminal deletion of distal XqT Ishikawa, M Kanayama, Y Wada
Clinical Genetics|November 1, 1987
X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type)A E Emery
Pageof 718

Showing results (281-290 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|February 19, 2020
Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defectStine W Mathorne, Pernille Ravn, Dorte Hansen, et al.
Clinical Genetics|February 23, 2020
Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophyAnna Greco, Remko Goossens, Baziel van Engelen, et al.
Clinical Genetics|February 23, 2020
upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohortsTina D Hjortshøj, Anna R Sørensen, Melodi Yusibova, et al.
Clinical Genetics|February 14, 2020
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohortOwen M Siggs, Mona S Awadalla, Emmanuelle Souzeau, et al.
Clinical Genetics|February 14, 2020
New missense variants in RELT causing hypomineralised amelogenesis imperfectaGeorgios Nikolopoulos, Claire E L Smith, Steven J Brookes, et al.
Clinical Genetics|August 1, 1988
Neural tube defects and omphalocele in trisomy 18C A Moore, J P Harmon, L M Padilla, et al.
Clinical Genetics|December 18, 2019
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disabilityLise Larcher, Julien Buratti, Bénédicte Héron-Longe, et al.
Clinical Genetics|November 3, 2020
A review on age-related cancer risks in PTEN hamartoma tumor syndromeLinda A J Hendricks, Nicoline Hoogerbrugge, Janneke H M Schuurs-Hoeijmakers, et al.
Clinical Genetics|November 1, 1987
Prader-Willi syndrome in two siblings: one with normal karyotype, one with a terminal deletion of distal XqT Ishikawa, M Kanayama, Y Wada
Clinical Genetics|November 1, 1987
X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type)A E Emery
Pageof 718