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Daniela Del Gaudio

Showing results (31-40 of 55) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|September 23, 2017
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNAMay Sanyoura, Laura Jacobsen, David Carmody, et al.
Pediatric Diabetes|December 2, 2017
FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndromeJessica L Hwang, Soo-Young Park, Honggang Ye, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variantsTracy Brandt, Laura M Sack, Dolores Arjona, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2019
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variantsTracy Brandt, Laura M Sack, Dolores Arjona, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2026
Germline genetic testing and privacy concerns in patients with mesotheliomaOwen D Mitchell, Abigail P Sneider, Katie Gilliam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2018
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypesMiao Sun, Amy Knight Johnson, Viswateja Nelakuditi, et al.
Human Mutation|April 14, 2022
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disordersLia DeRoin, Marcela Cavalcante de Andrade Silva, Kristin Petras, et al.
Haematologica|April 15, 2024
Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantationGregory W Roloff, Satyajit Kosuri, Mariam T Nawas, et al.
Journal of Human Genetics|December 28, 2017
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndromeMaria Helgeson, Jennifer Keller-Ramey, Amy Knight Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridizationTrilochan Sahoo, Sau Wai Cheung, Patricia Ward, et al.
Pageof 6

Showing results (31-40 of 55) with videos related to

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Pageof 6
The Journal of Clinical Endocrinology and Metabolism|September 23, 2017
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNAMay Sanyoura, Laura Jacobsen, David Carmody, et al.
Pediatric Diabetes|December 2, 2017
FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndromeJessica L Hwang, Soo-Young Park, Honggang Ye, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variantsTracy Brandt, Laura M Sack, Dolores Arjona, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2019
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variantsTracy Brandt, Laura M Sack, Dolores Arjona, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2026
Germline genetic testing and privacy concerns in patients with mesotheliomaOwen D Mitchell, Abigail P Sneider, Katie Gilliam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2018
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypesMiao Sun, Amy Knight Johnson, Viswateja Nelakuditi, et al.
Human Mutation|April 14, 2022
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disordersLia DeRoin, Marcela Cavalcante de Andrade Silva, Kristin Petras, et al.
Haematologica|April 15, 2024
Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantationGregory W Roloff, Satyajit Kosuri, Mariam T Nawas, et al.
Journal of Human Genetics|December 28, 2017
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndromeMaria Helgeson, Jennifer Keller-Ramey, Amy Knight Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridizationTrilochan Sahoo, Sau Wai Cheung, Patricia Ward, et al.
Pageof 6