Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Howard Martin

Showing results (21-30 of 39) with videos related to

Pageof 4
Sort By:
Therapeutic Advances in Rare Disease|May 14, 2023
Therapeutic and diagnostic advances in Stickler syndromeMartin Snead, Howard Martin, Peter Bale, et al.
American Journal of Medical Genetics. Part A|May 13, 2017
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutationJennifer Hague, Isabelle Delon, Kim Brugger, et al.
The Journal of Clinical Endocrinology and Metabolism|November 9, 2004
Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndromeSabine E Hannema, Ian S Scott, John Hodapp, et al.
European Journal of Ophthalmology|April 9, 2023
Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndromeHammad Malik, Zack Soh, Thomas R W Nixon, et al.
Eye (London, England)|October 15, 2024
Retinal detachment in Type IX collagen recessive Stickler syndromeDaniel Maghsoudi, Thomas Rw Nixon, Howard Martin, et al.
Eye (London, England)|June 29, 2026
Vitreous phenotyping distinguishes Wagner syndrome from ocular-only Stickler syndrome: a case seriesDavid C S Wong, Olivia S Knutson, Thomas R W Nixon, et al.
Human Mutation|June 1, 2010
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1Allan J Richards, Annie McNinch, Howard Martin, et al.
The New England Journal of Medicine|April 5, 2023
Cambridge Prophylactic Protocol, Retinal Detachment, and Stickler SyndromePhilip Alexander, Gregory S Fincham, Senjah Brown, et al.
Journal of Medical Genetics|June 5, 2007
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three childrenFarah Zahir, Helen V Firth, Agnes Baross, et al.
Archives of Disease in Childhood|March 7, 2023
Legg-Calve-Perthes' disease: an opportunity to prevent blindness?Aijing Wang, Thomas Nixon, Howard Martin, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
Therapeutic Advances in Rare Disease|May 14, 2023
Therapeutic and diagnostic advances in Stickler syndromeMartin Snead, Howard Martin, Peter Bale, et al.
American Journal of Medical Genetics. Part A|May 13, 2017
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutationJennifer Hague, Isabelle Delon, Kim Brugger, et al.
The Journal of Clinical Endocrinology and Metabolism|November 9, 2004
Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndromeSabine E Hannema, Ian S Scott, John Hodapp, et al.
European Journal of Ophthalmology|April 9, 2023
Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndromeHammad Malik, Zack Soh, Thomas R W Nixon, et al.
Eye (London, England)|October 15, 2024
Retinal detachment in Type IX collagen recessive Stickler syndromeDaniel Maghsoudi, Thomas Rw Nixon, Howard Martin, et al.
Eye (London, England)|June 29, 2026
Vitreous phenotyping distinguishes Wagner syndrome from ocular-only Stickler syndrome: a case seriesDavid C S Wong, Olivia S Knutson, Thomas R W Nixon, et al.
Human Mutation|June 1, 2010
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1Allan J Richards, Annie McNinch, Howard Martin, et al.
The New England Journal of Medicine|April 5, 2023
Cambridge Prophylactic Protocol, Retinal Detachment, and Stickler SyndromePhilip Alexander, Gregory S Fincham, Senjah Brown, et al.
Journal of Medical Genetics|June 5, 2007
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three childrenFarah Zahir, Helen V Firth, Agnes Baross, et al.
Archives of Disease in Childhood|March 7, 2023
Legg-Calve-Perthes' disease: an opportunity to prevent blindness?Aijing Wang, Thomas Nixon, Howard Martin, et al.
Pageof 4