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Ada Hamosh

Showing results (71-80 of 109) with videos related to

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Pediatrics|July 4, 2006
Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylationRonald D Cohn, Erik Eklund, Amanda L Bergner, et al.
American Journal of Human Genetics|June 11, 2019
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile EncephalopathyBoris Fichtman, Tamar Harel, Nitzan Biran, et al.
Gastroenterology|October 13, 2006
Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosisScott M Blackman, Rebecca Deering-Brose, Rita McWilliams, et al.
Nature Reviews. Drug Discovery|February 6, 2020
How many rare diseases are there?Melissa Haendel, Nicole Vasilevsky, Deepak Unni, et al.
Human Mutation|February 22, 2022
Variant-level matching for diagnosis and discovery: Challenges and opportunitiesEliete da S Rodrigues, Sean Griffith, Renan Martin, et al.
Orphanet Journal of Rare Diseases|September 11, 2024
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseasesChiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, et al.
Histopathology|March 19, 2026
The WHO Classification of Genetic Tumour Syndromes: Considerations for histopathologyIan A Cree, Mark J Arends, Joseph D Khoury, et al.
Clinical Genetics|June 17, 2026
The WHO Classification of Genetic Tumour Syndromes: Considerations for GeneticsIan A Cree, Mark J Arends, Joseph D Khoury, et al.
American Journal of Human Genetics|September 3, 2021
Response to Biesecker et alAda Hamosh, Joanna S Amberger, Carol A Bocchini, et al.
Genetics in Medicine Open|December 13, 2024
The impact of the Turkish population variome on the genomic architecture of rare disease traitsZeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, et al.
Pageof 11

Showing results (71-80 of 109) with videos related to

Sort By:
Pageof 11
Pediatrics|July 4, 2006
Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylationRonald D Cohn, Erik Eklund, Amanda L Bergner, et al.
American Journal of Human Genetics|June 11, 2019
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile EncephalopathyBoris Fichtman, Tamar Harel, Nitzan Biran, et al.
Gastroenterology|October 13, 2006
Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosisScott M Blackman, Rebecca Deering-Brose, Rita McWilliams, et al.
Nature Reviews. Drug Discovery|February 6, 2020
How many rare diseases are there?Melissa Haendel, Nicole Vasilevsky, Deepak Unni, et al.
Human Mutation|February 22, 2022
Variant-level matching for diagnosis and discovery: Challenges and opportunitiesEliete da S Rodrigues, Sean Griffith, Renan Martin, et al.
Orphanet Journal of Rare Diseases|September 11, 2024
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseasesChiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, et al.
Histopathology|March 19, 2026
The WHO Classification of Genetic Tumour Syndromes: Considerations for histopathologyIan A Cree, Mark J Arends, Joseph D Khoury, et al.
Clinical Genetics|June 17, 2026
The WHO Classification of Genetic Tumour Syndromes: Considerations for GeneticsIan A Cree, Mark J Arends, Joseph D Khoury, et al.
American Journal of Human Genetics|September 3, 2021
Response to Biesecker et alAda Hamosh, Joanna S Amberger, Carol A Bocchini, et al.
Genetics in Medicine Open|December 13, 2024
The impact of the Turkish population variome on the genomic architecture of rare disease traitsZeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, et al.
Pageof 11