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Matthew E Hurles

Showing results (161-170 of 190) with videos related to

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Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
American Journal of Human Genetics|June 7, 2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger, Davut Pehlivan, Stefan Johansson, et al.
Nature Genetics|October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyCarol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.
Nature|September 11, 2024
Genetic links between ovarian ageing, cancer risk and de novo mutation ratesStasa Stankovic, Saleh Shekari, Qin Qin Huang, et al.
Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
The Journal of Clinical Endocrinology and Metabolism|June 20, 2023
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and PubertyKatie Duckett, Alice Williamson, John W R Kincaid, et al.
American Journal of Human Genetics|May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic DiseasesKym M Boycott, Ana Rath, Jessica X Chong, et al.
American Journal of Human Genetics|September 2, 2017
Rare Variants in NR2F2 Cause Congenital Heart Defects in HumansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.
Pageof 19

Showing results (161-170 of 190) with videos related to

Sort By:
Pageof 19
Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
American Journal of Human Genetics|June 7, 2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger, Davut Pehlivan, Stefan Johansson, et al.
Nature Genetics|October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyCarol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.
Nature|September 11, 2024
Genetic links between ovarian ageing, cancer risk and de novo mutation ratesStasa Stankovic, Saleh Shekari, Qin Qin Huang, et al.
Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
The Journal of Clinical Endocrinology and Metabolism|June 20, 2023
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and PubertyKatie Duckett, Alice Williamson, John W R Kincaid, et al.
American Journal of Human Genetics|May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic DiseasesKym M Boycott, Ana Rath, Jessica X Chong, et al.
American Journal of Human Genetics|September 2, 2017
Rare Variants in NR2F2 Cause Congenital Heart Defects in HumansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.
Pageof 19