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

Jules G Leroy

Showing results (1-10 of 30) with videos related to

Pageof 3
Sort By:
Pediatric Research|October 27, 2006
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defectsJules G Leroy
American Journal of Medical Genetics. Part A|September 2, 2003
Unfortunate oversightJules G Leroy
Advances in Pediatrics|August 30, 2005
Nonsyndromic microcephaly: an overviewJules G Leroy, Jaime L Frías
Pediatric Pathology & Molecular Medicine|April 12, 2003
Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndromeJules G Leroy, Lieve Claus, Brendan Lee, et al.
American Journal of Medical Genetics. Part A|May 12, 2005
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasiaRobert A Saul, Virginia Proud, Harold A Taylor, et al.
American Journal of Medical Genetics. Part A|November 15, 2007
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 geneJules G Leroy, Lieve Nuytinck, Jo Lambert, et al.
American Journal of Medical Genetics. Part A|July 14, 2006
RMRP mutations in cartilage-hair hypoplasiaPia Hermanns, Alyssa Tran, Elda Munivez, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Long-term observation of a patient with dominant omodysplasiaBarbara L Gordon, Neena L Champaigne, R Curtis Rogers, et al.
Acta Neuropathologica|July 14, 2007
Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtypeJules G Leroy, Gilles Lyon, Catherine Fallet, et al.
European Journal of Human Genetics : EJHG|June 26, 2002
A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 geneKatharina Wimmer, Manfred Mühlbauer, Markus Eckart, et al.
Pageof 3

Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
Pediatric Research|October 27, 2006
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defectsJules G Leroy
American Journal of Medical Genetics. Part A|September 2, 2003
Unfortunate oversightJules G Leroy
Advances in Pediatrics|August 30, 2005
Nonsyndromic microcephaly: an overviewJules G Leroy, Jaime L Frías
Pediatric Pathology & Molecular Medicine|April 12, 2003
Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndromeJules G Leroy, Lieve Claus, Brendan Lee, et al.
American Journal of Medical Genetics. Part A|May 12, 2005
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasiaRobert A Saul, Virginia Proud, Harold A Taylor, et al.
American Journal of Medical Genetics. Part A|November 15, 2007
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 geneJules G Leroy, Lieve Nuytinck, Jo Lambert, et al.
American Journal of Medical Genetics. Part A|July 14, 2006
RMRP mutations in cartilage-hair hypoplasiaPia Hermanns, Alyssa Tran, Elda Munivez, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Long-term observation of a patient with dominant omodysplasiaBarbara L Gordon, Neena L Champaigne, R Curtis Rogers, et al.
Acta Neuropathologica|July 14, 2007
Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtypeJules G Leroy, Gilles Lyon, Catherine Fallet, et al.
European Journal of Human Genetics : EJHG|June 26, 2002
A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 geneKatharina Wimmer, Manfred Mühlbauer, Markus Eckart, et al.
Pageof 3