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Human Mutation
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April 26, 2018
Novel CASK mutations in cases with syndromic microcephaly
Francesca Cristofoli, Koen Devriendt, Erica E Davis, et al.
Investigative Ophthalmology & Visual Science
|
March 6, 2014
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31
Adda Villanueva, Jason R Willer, Julien Bryois, et al.
Journal of Visualized Experiments : Jove
|
September 3, 2013
In vivo modeling of the morbid human genome using Danio rerio
Adrienne R Niederriter, Erica E Davis, Christelle Golzio, et al.
Biomedical Reports
|
November 11, 2021
A case of Bardet-Biedl syndrome caused by a recurrent variant in <i>BBS12</i>: A case report
Ina Ofelia Focșa, Magdalena Budișteanu, Carmen Burloiu, et al.
International Journal of Obesity (2005)
|
May 13, 2022
Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program
Karyn J Roberts, Adolfo J Ariza, Kavitha Selvaraj, et al.
Human Genomics
|
July 21, 2017
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
Benjamin M Helm, Jason R Willer, Azita Sadeghpour, et al.
Kidney International
|
November 15, 2021
Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations
Kamal Khan, Dina F Ahram, Yangfan P Liu, et al.
Nature
|
July 1, 2015
Identification of cis-suppression of human disease mutations by comparative genomics
Daniel M Jordan, Stephan G Frangakis, Christelle Golzio, et al.
Plos One
|
April 12, 2013
Delta-like 1 homolog (dlk1): a marker for rhabdomyosarcomas implicated in skeletal muscle regeneration
Louise H Jørgensen, Jeeva Sellathurai, Erica E Davis, et al.
Journal of Participatory Medicine
|
October 14, 2020
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions
Sara Huston Katsanis, Mollie A Minear, Azita Sadeghpour, et al.
Page
of 13
Search research articles
Search
Showing results (11-20 of 125) with videos related to
Sort By:
Page
of 13
Human Mutation
|
April 26, 2018
Novel CASK mutations in cases with syndromic microcephaly
Francesca Cristofoli, Koen Devriendt, Erica E Davis, et al.
Investigative Ophthalmology & Visual Science
|
March 6, 2014
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31
Adda Villanueva, Jason R Willer, Julien Bryois, et al.
Journal of Visualized Experiments : Jove
|
September 3, 2013
In vivo modeling of the morbid human genome using Danio rerio
Adrienne R Niederriter, Erica E Davis, Christelle Golzio, et al.
Biomedical Reports
|
November 11, 2021
A case of Bardet-Biedl syndrome caused by a recurrent variant in <i>BBS12</i>: A case report
Ina Ofelia Focșa, Magdalena Budișteanu, Carmen Burloiu, et al.
International Journal of Obesity (2005)
|
May 13, 2022
Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program
Karyn J Roberts, Adolfo J Ariza, Kavitha Selvaraj, et al.
Human Genomics
|
July 21, 2017
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
Benjamin M Helm, Jason R Willer, Azita Sadeghpour, et al.
Kidney International
|
November 15, 2021
Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations
Kamal Khan, Dina F Ahram, Yangfan P Liu, et al.
Nature
|
July 1, 2015
Identification of cis-suppression of human disease mutations by comparative genomics
Daniel M Jordan, Stephan G Frangakis, Christelle Golzio, et al.
Plos One
|
April 12, 2013
Delta-like 1 homolog (dlk1): a marker for rhabdomyosarcomas implicated in skeletal muscle regeneration
Louise H Jørgensen, Jeeva Sellathurai, Erica E Davis, et al.
Journal of Participatory Medicine
|
October 14, 2020
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions
Sara Huston Katsanis, Mollie A Minear, Azita Sadeghpour, et al.
Page
of 13