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Showing results (211-220 of 269) with videos related to

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Human Molecular Genetics|July 27, 2010
Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defectsJavier T Granados-Riveron, Tushar K Ghosh, Mark Pope, et al.
Genetic Testing and Molecular Biomarkers|September 30, 2010
GATA4 mutations in 357 unrelated patients with congenital heart malformationTanya L Butler, Giorgia Esposito, Gillian M Blue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2018
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome"Edwin P Kirk, Kristine Barlow-Stewart, Arthavan Selvanathan, et al.
Molecular Genetics and Metabolism|August 4, 2022
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertainSarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, et al.
American Journal of Medical Genetics. Part A|June 9, 2019
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experienceAlan Ma, Sunita Gurnasinghani, Edwin P Kirk, et al.
Journal of Human Genetics|November 7, 2009
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populationsSanae Numata, Yoshiro Koda, Kenji Ihara, et al.
Molecular Syndromology|July 22, 2010
Periventricular heterotopia in common microdeletion syndromesM van Kogelenberg, S Ghedia, G McGillivray, et al.
Pediatrics|July 22, 2009
Expanded newborn screening: outcome in screened and unscreened patients at age 6 yearsBridget Wilcken, Marion Haas, Pamela Joy, et al.
Journal of Medical Genetics|September 20, 2013
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencingBenjamin Nota, Eline M Hamilton, Daoud Sie, et al.
Journal of Medical Genetics|May 19, 2009
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndromeT Y Tan, S Aftimos, L Worgan, et al.
Pageof 27

Showing results (211-220 of 269) with videos related to

Sort By:
Pageof 27
Human Molecular Genetics|July 27, 2010
Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defectsJavier T Granados-Riveron, Tushar K Ghosh, Mark Pope, et al.
Genetic Testing and Molecular Biomarkers|September 30, 2010
GATA4 mutations in 357 unrelated patients with congenital heart malformationTanya L Butler, Giorgia Esposito, Gillian M Blue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2018
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome"Edwin P Kirk, Kristine Barlow-Stewart, Arthavan Selvanathan, et al.
Molecular Genetics and Metabolism|August 4, 2022
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertainSarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, et al.
American Journal of Medical Genetics. Part A|June 9, 2019
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experienceAlan Ma, Sunita Gurnasinghani, Edwin P Kirk, et al.
Journal of Human Genetics|November 7, 2009
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populationsSanae Numata, Yoshiro Koda, Kenji Ihara, et al.
Molecular Syndromology|July 22, 2010
Periventricular heterotopia in common microdeletion syndromesM van Kogelenberg, S Ghedia, G McGillivray, et al.
Pediatrics|July 22, 2009
Expanded newborn screening: outcome in screened and unscreened patients at age 6 yearsBridget Wilcken, Marion Haas, Pamela Joy, et al.
Journal of Medical Genetics|September 20, 2013
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencingBenjamin Nota, Eline M Hamilton, Daoud Sie, et al.
Journal of Medical Genetics|May 19, 2009
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndromeT Y Tan, S Aftimos, L Worgan, et al.
Pageof 27