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

Y J Crow

Showing results (21-30 of 40) with videos related to

Pageof 4
Sort By:
Lupus|May 9, 2013
Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathyC Troedson, M Wong, J Dalby-Payne, et al.
Journal of Medical Genetics|August 3, 2004
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrumW Borozdin, M J Wright, R C M Hennekam, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|October 4, 2011
[Genetic syndromes that mimic congenital infections: report of 2 cases]M Thibault, J Leydet, E Tournier-Lasserve, et al.
RMD Open|June 3, 2016
ADA2 deficiency: case report of a new phenotype and novel mutation in two sistersF Uettwiller, G Sarrabay, M P Rodero, et al.
The Journal of Pediatrics|May 5, 2005
Genetic syndromes mimic congenital infectionsA Sanchis, L Cerveró, A Bataller, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 11, 2007
Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathyS Orcesi, A Pessagno, R Biancheri, et al.
American Journal of Medical Genetics. Part A|October 17, 2008
Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulationV Navarro, C Scott, T A Briggs, et al.
Journal of Medical Genetics|September 11, 1998
Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from ScotlandP B Munroe, N D Greene, K Y Leung, et al.
Journal of Medical Genetics|March 8, 2003
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolismY J Crow, D N Black, M Ali, et al.
Journal of Medical Genetics|August 10, 2001
A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?J Henwood, C Pickard, J P Leek, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
Lupus|May 9, 2013
Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathyC Troedson, M Wong, J Dalby-Payne, et al.
Journal of Medical Genetics|August 3, 2004
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrumW Borozdin, M J Wright, R C M Hennekam, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|October 4, 2011
[Genetic syndromes that mimic congenital infections: report of 2 cases]M Thibault, J Leydet, E Tournier-Lasserve, et al.
RMD Open|June 3, 2016
ADA2 deficiency: case report of a new phenotype and novel mutation in two sistersF Uettwiller, G Sarrabay, M P Rodero, et al.
The Journal of Pediatrics|May 5, 2005
Genetic syndromes mimic congenital infectionsA Sanchis, L Cerveró, A Bataller, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 11, 2007
Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathyS Orcesi, A Pessagno, R Biancheri, et al.
American Journal of Medical Genetics. Part A|October 17, 2008
Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulationV Navarro, C Scott, T A Briggs, et al.
Journal of Medical Genetics|September 11, 1998
Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from ScotlandP B Munroe, N D Greene, K Y Leung, et al.
Journal of Medical Genetics|March 8, 2003
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolismY J Crow, D N Black, M Ali, et al.
Journal of Medical Genetics|August 10, 2001
A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?J Henwood, C Pickard, J P Leek, et al.
Pageof 4