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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2016
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and GenomicsFrederick R Bieber, Athena M Cherry, Beverly S Emanuel, et al.
European Journal of Human Genetics : EJHG|March 19, 2026
A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemiaIryna Leshchynska, Debjani Das, Victoria O'Reilly, et al.
European Journal of Human Genetics : EJHG|August 16, 2012
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersLuigi Boccuto, Maria Lauri, Sara M Sarasua, et al.
Human Molecular Genetics|December 2, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disordersJessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, et al.
Human Genetics|September 12, 2000
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardationM J Friez, F B Essop, A Krause, et al.
Journal of Medical Genetics|September 23, 2008
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndromeM J Lyons, J M Graham, G Neri, et al.
American Journal of Medical Genetics. Part A|March 21, 2017
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasoundRaymond J Louie, Queenie K-G Tan, Jennifer B Gilner, et al.
Toxins|April 26, 2024
Sortase-Modified Cholera Toxoids Show Specific Golgi LocalizationDarren C Machin, Daniel J Williamson, Peter Fisher, et al.
Blood|June 4, 2010
Recurrent BRAF mutations in Langerhans cell histiocytosisGayane Badalian-Very, Jo-Anne Vergilio, Barbara A Degar, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 6, 2014
Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantationRafael Bejar, Kristen E Stevenson, Bennett Caughey, et al.
Pageof 55

Showing results (451-460 of 550) with videos related to

Sort By:
Pageof 55
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2016
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and GenomicsFrederick R Bieber, Athena M Cherry, Beverly S Emanuel, et al.
European Journal of Human Genetics : EJHG|March 19, 2026
A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemiaIryna Leshchynska, Debjani Das, Victoria O'Reilly, et al.
European Journal of Human Genetics : EJHG|August 16, 2012
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersLuigi Boccuto, Maria Lauri, Sara M Sarasua, et al.
Human Molecular Genetics|December 2, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disordersJessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, et al.
Human Genetics|September 12, 2000
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardationM J Friez, F B Essop, A Krause, et al.
Journal of Medical Genetics|September 23, 2008
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndromeM J Lyons, J M Graham, G Neri, et al.
American Journal of Medical Genetics. Part A|March 21, 2017
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasoundRaymond J Louie, Queenie K-G Tan, Jennifer B Gilner, et al.
Toxins|April 26, 2024
Sortase-Modified Cholera Toxoids Show Specific Golgi LocalizationDarren C Machin, Daniel J Williamson, Peter Fisher, et al.
Blood|June 4, 2010
Recurrent BRAF mutations in Langerhans cell histiocytosisGayane Badalian-Very, Jo-Anne Vergilio, Barbara A Degar, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 6, 2014
Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantationRafael Bejar, Kristen E Stevenson, Bennett Caughey, et al.
Pageof 55