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 Halley

Showing results (181-190 of 194) with videos related to

Pageof 20
Sort By:
Neurology|January 11, 2007
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotypeM A Kroos, R J Pomponio, M L Hagemans, et al.
American Journal of Medical Genetics. Part A|July 23, 2013
Novel no-stop FLNA mutation causes multi-organ involvement in malesRenske Oegema, Jessie M Hulst, Sabine D M Theuns-Valks, et al.
American Journal of Medical Genetics|September 5, 2002
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1Thomas Sander, Christine Windemuth, Herbert Schulz, et al.
The Journal of Clinical Endocrinology and Metabolism|December 22, 1999
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutationsA L Boehmer, A O Brinkmann, L A Sandkuijl, et al.
Human Molecular Genetics|October 1, 1996
Positional cloning of a gene involved in hereditary multiple exostosesW Wuyts, W Van Hul, J Wauters, et al.
Clinical Genetics|July 31, 2007
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplificationF J Hes, R B van der Luijt, A L W Janssen, et al.
Annals of Neurology|November 23, 2006
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutationAn C Jansen, Ozgur Sancak, Maria Daniela D'Agostino, et al.
Ambio|September 25, 2004
The return of the giants: ecological effects of an increasing elephant populationChristina Skarpe, Per Arild Aarrestad, Harry P Andreassen, et al.
European Journal of Human Genetics : EJHG|February 10, 2019
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arraysIneke Labrijn-Marks, Galhana M Somers-Bolman, Stijn L M In 't Groen, et al.
Human Mutation|March 17, 2010
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutationsMarlies J Valstar, Aida M Bertoli-Avella, Marja W Wessels, et al.
Pageof 20

Showing results (181-190 of 194) with videos related to

Sort By:
Pageof 20
Neurology|January 11, 2007
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotypeM A Kroos, R J Pomponio, M L Hagemans, et al.
American Journal of Medical Genetics. Part A|July 23, 2013
Novel no-stop FLNA mutation causes multi-organ involvement in malesRenske Oegema, Jessie M Hulst, Sabine D M Theuns-Valks, et al.
American Journal of Medical Genetics|September 5, 2002
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1Thomas Sander, Christine Windemuth, Herbert Schulz, et al.
The Journal of Clinical Endocrinology and Metabolism|December 22, 1999
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutationsA L Boehmer, A O Brinkmann, L A Sandkuijl, et al.
Human Molecular Genetics|October 1, 1996
Positional cloning of a gene involved in hereditary multiple exostosesW Wuyts, W Van Hul, J Wauters, et al.
Clinical Genetics|July 31, 2007
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplificationF J Hes, R B van der Luijt, A L W Janssen, et al.
Annals of Neurology|November 23, 2006
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutationAn C Jansen, Ozgur Sancak, Maria Daniela D'Agostino, et al.
Ambio|September 25, 2004
The return of the giants: ecological effects of an increasing elephant populationChristina Skarpe, Per Arild Aarrestad, Harry P Andreassen, et al.
European Journal of Human Genetics : EJHG|February 10, 2019
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arraysIneke Labrijn-Marks, Galhana M Somers-Bolman, Stijn L M In 't Groen, et al.
Human Mutation|March 17, 2010
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutationsMarlies J Valstar, Aida M Bertoli-Avella, Marja W Wessels, et al.
Pageof 20