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Clinical genetics

Showing results (291-300 of 7,173) with videos related to

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Clinical Genetics|November 1, 2020
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variantsEva Z Jacobs, Kathleen Brown, Melissa C Byler, et al.
Clinical Genetics|October 19, 2020
Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM geneLynn Backers, Bram Parton, Marieke De Bruyne, et al.
Clinical Genetics|May 1, 1988
Partial trisomy 20q due to paternal t(8;20) translocation. Case report and review of the literatureG Pierquin, C Herens, P Dodinval, et al.
Clinical Genetics|September 5, 2020
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiencyMaian Roifman, Kirsten M Niles, Lauren MacNeil, et al.
Clinical Genetics|September 14, 2020
Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related conditionElise Brischoux-Boucher, Eric Dahlen, Céline Gronier, et al.
Clinical Genetics|September 2, 2020
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delayMuhammad Umair, Mariam Ballow, Abdulaziz Asiri, et al.
Clinical Genetics|October 18, 2020
Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and miceBeibei Zhang, Ihsan Khan, Chunyu Liu, et al.
Clinical Genetics|January 9, 2020
Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosisEster López-Gallardo, Francisco Cammarata-Scalisi, Sonia Emperador, et al.
Clinical Genetics|March 11, 2020
Exploring the genetic pathogenicity of aortic dissection from 72 Han Chinese individuals using next-generation sequencingMeichen Pan, Shu Chen, Haihao Wang, et al.
Clinical Genetics|March 13, 2020
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" familiesAlison Eaton, Taila Hartley, Kristin Kernohan, et al.
Pageof 718

Showing results (291-300 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|November 1, 2020
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variantsEva Z Jacobs, Kathleen Brown, Melissa C Byler, et al.
Clinical Genetics|October 19, 2020
Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM geneLynn Backers, Bram Parton, Marieke De Bruyne, et al.
Clinical Genetics|May 1, 1988
Partial trisomy 20q due to paternal t(8;20) translocation. Case report and review of the literatureG Pierquin, C Herens, P Dodinval, et al.
Clinical Genetics|September 5, 2020
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiencyMaian Roifman, Kirsten M Niles, Lauren MacNeil, et al.
Clinical Genetics|September 14, 2020
Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related conditionElise Brischoux-Boucher, Eric Dahlen, Céline Gronier, et al.
Clinical Genetics|September 2, 2020
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delayMuhammad Umair, Mariam Ballow, Abdulaziz Asiri, et al.
Clinical Genetics|October 18, 2020
Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and miceBeibei Zhang, Ihsan Khan, Chunyu Liu, et al.
Clinical Genetics|January 9, 2020
Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosisEster López-Gallardo, Francisco Cammarata-Scalisi, Sonia Emperador, et al.
Clinical Genetics|March 11, 2020
Exploring the genetic pathogenicity of aortic dissection from 72 Han Chinese individuals using next-generation sequencingMeichen Pan, Shu Chen, Haihao Wang, et al.
Clinical Genetics|March 13, 2020
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" familiesAlison Eaton, Taila Hartley, Kristin Kernohan, et al.
Pageof 718