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Showing results (101-110 of 110) with videos related to

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Seminars in Hematology|October 7, 2004
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patientsNeal J Weinreb, Mario C Aggio, Hans C Andersson, et al.
Orphanet Journal of Rare Diseases|November 7, 2016
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?Marie Morimoto, Clara Myung, Kimberly Beirnes, et al.
Lancet (London, England)|September 6, 2020
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trialRavi Savarirayan, Louise Tofts, Melita Irving, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2021
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension studyRavi Savarirayan, Louise Tofts, Melita Irving, et al.
The New England Journal of Medicine|August 11, 2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone MigalastatDominique P Germain, Derralynn A Hughes, Kathleen Nicholls, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2022
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational studyRavi Savarirayan, Melita Irving, Paul Harmatz, et al.
Orphanet Journal of Rare Diseases|September 25, 2012
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Marie Morimoto, Zhongxin Yu, Peter Stenzel, et al.
American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
American Journal of Human Genetics|August 4, 2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingLot Snijders Blok, Erik Madsen, Jane Juusola, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.
Pageof 11

Showing results (101-110 of 110) with videos related to

Sort By:
Pageof 11
You have reached the last page of results.This site can display upto 110 results.
Seminars in Hematology|October 7, 2004
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patientsNeal J Weinreb, Mario C Aggio, Hans C Andersson, et al.
Orphanet Journal of Rare Diseases|November 7, 2016
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?Marie Morimoto, Clara Myung, Kimberly Beirnes, et al.
Lancet (London, England)|September 6, 2020
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trialRavi Savarirayan, Louise Tofts, Melita Irving, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2021
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension studyRavi Savarirayan, Louise Tofts, Melita Irving, et al.
The New England Journal of Medicine|August 11, 2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone MigalastatDominique P Germain, Derralynn A Hughes, Kathleen Nicholls, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2022
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational studyRavi Savarirayan, Melita Irving, Paul Harmatz, et al.
Orphanet Journal of Rare Diseases|September 25, 2012
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Marie Morimoto, Zhongxin Yu, Peter Stenzel, et al.
American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
American Journal of Human Genetics|August 4, 2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingLot Snijders Blok, Erik Madsen, Jane Juusola, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.
Pageof 11