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Clinical genetics

Showing results (651-660 of 7,173) with videos related to

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Clinical Genetics|September 17, 2019
The homozygous variant c.245G > A/p.G82D in PNPLA2 is associated with arrhythmogenic cardiomyopathy phenotypic manifestationsMan Rao, Guangran Guo, Mengmeng Li, et al.
Clinical Genetics|January 1, 1985
Diabetes mellitus in Huntington diseaseL A Farrer
Clinical Genetics|August 25, 2019
Causative and common PHOX2B variants define a broad phenotypic spectrumTiziana Bachetti, Isabella Ceccherini
Clinical Genetics|August 18, 2019
Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping reviewElizabeth Gilliam, Jodi D Hoffman, Gloria Yeh
Clinical Genetics|June 1, 1985
Co-cultivation studies in the expression of fragile (X) (q27) in lymphocytesT P Webb
Clinical Genetics|June 1, 1985
Deficiency of fumarylacetoacetase without hereditary tyrosinemiaE A Kvittingen, A L Børresen, O Stokke, et al.
Clinical Genetics|June 1, 1985
Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1)F Shabtai, U Sandowski, R Nissimov, et al.
Clinical Genetics|December 1, 1979
Positive H-Y antigen testing in a case of XY gonadal absence syndromeM J Schulte
Clinical Genetics|July 30, 2019
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defectsKatarzyna Krenke, Krzysztof Szczałuba, Teresa Bielecka, et al.
Clinical Genetics|July 30, 2019
What is new about the genetic background of Hirschsprung disease?Berta Luzón-Toro, Leticia Villalba-Benito, Ana Torroglosa, et al.
Pageof 718

Showing results (651-660 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|September 17, 2019
The homozygous variant c.245G > A/p.G82D in PNPLA2 is associated with arrhythmogenic cardiomyopathy phenotypic manifestationsMan Rao, Guangran Guo, Mengmeng Li, et al.
Clinical Genetics|January 1, 1985
Diabetes mellitus in Huntington diseaseL A Farrer
Clinical Genetics|August 25, 2019
Causative and common PHOX2B variants define a broad phenotypic spectrumTiziana Bachetti, Isabella Ceccherini
Clinical Genetics|August 18, 2019
Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping reviewElizabeth Gilliam, Jodi D Hoffman, Gloria Yeh
Clinical Genetics|June 1, 1985
Co-cultivation studies in the expression of fragile (X) (q27) in lymphocytesT P Webb
Clinical Genetics|June 1, 1985
Deficiency of fumarylacetoacetase without hereditary tyrosinemiaE A Kvittingen, A L Børresen, O Stokke, et al.
Clinical Genetics|June 1, 1985
Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1)F Shabtai, U Sandowski, R Nissimov, et al.
Clinical Genetics|December 1, 1979
Positive H-Y antigen testing in a case of XY gonadal absence syndromeM J Schulte
Clinical Genetics|July 30, 2019
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defectsKatarzyna Krenke, Krzysztof Szczałuba, Teresa Bielecka, et al.
Clinical Genetics|July 30, 2019
What is new about the genetic background of Hirschsprung disease?Berta Luzón-Toro, Leticia Villalba-Benito, Ana Torroglosa, et al.
Pageof 718