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Clinical genetics

Showing results (331-340 of 7,173) with videos related to

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Clinical Genetics|November 6, 2021
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delayJennifer Hanson, Daniel Brezavar, Susan Hughes, et al.
Clinical Genetics|December 20, 2021
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry diseaseDominique P Germain, Thierry Levade, Eric Hachulla, et al.
Clinical Genetics|August 9, 2019
p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsyKristin D Kernohan, Arran McBride, Taila Hartley, et al.
Clinical Genetics|August 1, 1988
Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigreeA C Sewell, B F Pontz, G Benischek
Clinical Genetics|August 22, 2019
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing lossOscar Diaz-Horta, Guney Bademci, Suna Tokgoz-Yilmaz, et al.
Clinical Genetics|August 23, 2019
Multiple roles and regulatory mechanisms of the transcription factor GATA6 in human cancersZhaoqing Sun, Bo Yan
Clinical Genetics|October 7, 2022
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severityZulvikar Syambani Ulhaq, Dian Kesumapramudya Nurputra, Gita Vita Soraya, et al.
Clinical Genetics|September 26, 2022
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystoniaKenko Azuma, Shiro Horisawa, Hideaki Mashimo, et al.
Clinical Genetics|June 1, 1987
Convoluted cells as a marker for maternal cell contamination in CVS culturesJ M Hertz, P K Jensen, A J Therkelsen
Clinical Genetics|June 1, 1987
Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene?J N Bouwes Bavinck, A van Haeringen, D Ruiter, et al.
Pageof 718

Showing results (331-340 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|November 6, 2021
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delayJennifer Hanson, Daniel Brezavar, Susan Hughes, et al.
Clinical Genetics|December 20, 2021
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry diseaseDominique P Germain, Thierry Levade, Eric Hachulla, et al.
Clinical Genetics|August 9, 2019
p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsyKristin D Kernohan, Arran McBride, Taila Hartley, et al.
Clinical Genetics|August 1, 1988
Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigreeA C Sewell, B F Pontz, G Benischek
Clinical Genetics|August 22, 2019
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing lossOscar Diaz-Horta, Guney Bademci, Suna Tokgoz-Yilmaz, et al.
Clinical Genetics|August 23, 2019
Multiple roles and regulatory mechanisms of the transcription factor GATA6 in human cancersZhaoqing Sun, Bo Yan
Clinical Genetics|October 7, 2022
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severityZulvikar Syambani Ulhaq, Dian Kesumapramudya Nurputra, Gita Vita Soraya, et al.
Clinical Genetics|September 26, 2022
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystoniaKenko Azuma, Shiro Horisawa, Hideaki Mashimo, et al.
Clinical Genetics|June 1, 1987
Convoluted cells as a marker for maternal cell contamination in CVS culturesJ M Hertz, P K Jensen, A J Therkelsen
Clinical Genetics|June 1, 1987
Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene?J N Bouwes Bavinck, A van Haeringen, D Ruiter, et al.
Pageof 718