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

J A Goodship

Showing results (11-20 of 34) with videos related to

Pageof 4
Sort By:
Prenatal Diagnosis|December 18, 2001
Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with an update on a previous caseJ Wolstenholme, I White, S Sturgiss, et al.
Journal of Medical Genetics|June 5, 2001
Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4S W Tompson, V L Ruiz-Perez, M J Wright, et al.
Lancet (London, England)|September 5, 1992
Deletions within chromosome 22q11 in familial congenital heart diseaseD I Wilson, J A Goodship, J Burn, et al.
Prenatal Diagnosis|October 1, 1996
Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardationA L Webb, S Sturgiss, P Warwicker, et al.
Journal of Thrombosis and Haemostasis : JTH|August 17, 2005
The development of atypical hemolytic uremic syndrome is not influenced by thrombophilia susceptibility factorsE J Kemp, L Strain, M L Diaz-Torres, et al.
American Journal of Medical Genetics. Part A|May 13, 2006
A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other featuresYanick Joseph Crow, J A Goodship, C Wright, et al.
Journal of Medical Genetics|March 19, 2002
Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndromeJ A Goodship, J O'Sullivan, P F Chinnery, et al.
The Journal of Biological Chemistry|June 16, 2000
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophyK P Langton, N McKie, A Curtis, et al.
Neuromuscular Disorders : NMD|January 1, 1993
Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophyK M Bushby, J A Goodship, L V Nicholson, et al.
Journal of Medical Genetics|February 27, 2004
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsyC C Garcia, H J Blair, M Seager, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
Prenatal Diagnosis|December 18, 2001
Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with an update on a previous caseJ Wolstenholme, I White, S Sturgiss, et al.
Journal of Medical Genetics|June 5, 2001
Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4S W Tompson, V L Ruiz-Perez, M J Wright, et al.
Lancet (London, England)|September 5, 1992
Deletions within chromosome 22q11 in familial congenital heart diseaseD I Wilson, J A Goodship, J Burn, et al.
Prenatal Diagnosis|October 1, 1996
Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardationA L Webb, S Sturgiss, P Warwicker, et al.
Journal of Thrombosis and Haemostasis : JTH|August 17, 2005
The development of atypical hemolytic uremic syndrome is not influenced by thrombophilia susceptibility factorsE J Kemp, L Strain, M L Diaz-Torres, et al.
American Journal of Medical Genetics. Part A|May 13, 2006
A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other featuresYanick Joseph Crow, J A Goodship, C Wright, et al.
Journal of Medical Genetics|March 19, 2002
Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndromeJ A Goodship, J O'Sullivan, P F Chinnery, et al.
The Journal of Biological Chemistry|June 16, 2000
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophyK P Langton, N McKie, A Curtis, et al.
Neuromuscular Disorders : NMD|January 1, 1993
Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophyK M Bushby, J A Goodship, L V Nicholson, et al.
Journal of Medical Genetics|February 27, 2004
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsyC C Garcia, H J Blair, M Seager, et al.
Pageof 4