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S F Smithson

Showing results (1-10 of 10) with videos related to

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The British Journal of Dermatology|November 16, 2004
Diagnosis in dysmorphology: clues from the skinS F Smithson, R M Winter
Journal of Pediatric Orthopedics. Part B|November 11, 2005
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick typeRouin Amirfeyz, A Taylor, S F Smithson, et al.
Clinical Dysmorphology|May 29, 2000
The KBG syndromeS F Smithson, E M Thompson, A G McKinnon, et al.
Journal of Medical Genetics|May 19, 2001
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?B B De Vries, S J Knight, T Homfray, et al.
Clinical Dysmorphology|January 7, 2003
Siblings with Bohring-Opitz syndromeK L Greenhalgh, R A Newbury-Ecob, P W Lunt, et al.
Sarcoma|June 4, 2008
An association of multiple well differentiated liposarcomas, lipomatous tissue and hereditary retinoblastomaJ K O'Neill, C A Stone, P Sarsfield, et al.
Seizure|February 8, 2018
A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delayKaren J Low, M James, P M Sharples, et al.
European Journal of Human Genetics : EJHG|March 8, 2018
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancyK J Low, K Stals, R Caswell, et al.
Prenatal Diagnosis|September 3, 2010
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirthC G Steward, R A Newbury-Ecob, R Hastings, et al.
Journal of Medical Genetics|January 20, 2004
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasiaG C Jackson, F S Barker, E Jakkula, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
The British Journal of Dermatology|November 16, 2004
Diagnosis in dysmorphology: clues from the skinS F Smithson, R M Winter
Journal of Pediatric Orthopedics. Part B|November 11, 2005
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick typeRouin Amirfeyz, A Taylor, S F Smithson, et al.
Clinical Dysmorphology|May 29, 2000
The KBG syndromeS F Smithson, E M Thompson, A G McKinnon, et al.
Journal of Medical Genetics|May 19, 2001
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?B B De Vries, S J Knight, T Homfray, et al.
Clinical Dysmorphology|January 7, 2003
Siblings with Bohring-Opitz syndromeK L Greenhalgh, R A Newbury-Ecob, P W Lunt, et al.
Sarcoma|June 4, 2008
An association of multiple well differentiated liposarcomas, lipomatous tissue and hereditary retinoblastomaJ K O'Neill, C A Stone, P Sarsfield, et al.
Seizure|February 8, 2018
A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delayKaren J Low, M James, P M Sharples, et al.
European Journal of Human Genetics : EJHG|March 8, 2018
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancyK J Low, K Stals, R Caswell, et al.
Prenatal Diagnosis|September 3, 2010
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirthC G Steward, R A Newbury-Ecob, R Hastings, et al.
Journal of Medical Genetics|January 20, 2004
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasiaG C Jackson, F S Barker, E Jakkula, et al.
Pageof 1