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

Jürgen Spranger

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

Pageof 3
Sort By:
Pediatric Endocrinology Reviews : PER|January 3, 2018
Guiding Registry for Skeletal Dysplasia. Rational Approach in ClassificationBernhard Zabel, Jürgen Spranger
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Enchondromatosis revisited: new classification with molecular basisAndrea Superti-Furga, Jürgen Spranger, Gen Nishimura
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 2, 2014
Autopsy observations in lethal short-rib polydactyly syndromesPatricia Okiro, Helen Wainwright, Jürgen Spranger, et al.
European Journal of Pediatrics|November 2, 2004
Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosisRalph Melchior, Bernard Zabel, Jürgen Spranger, et al.
Pediatric Pathology & Molecular Medicine|April 12, 2003
Grebe dysplasia and the spectrum of CDMP1 mutationsChristiane Stelzer, Andreas Winterpacht, Jürgen Spranger, et al.
Human Mutation|July 13, 2006
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTGStephan Tiede, Michael Cantz, Jürgen Spranger, et al.
Pediatric Radiology|September 10, 2003
Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton typeLuitgard Neumann, Jürgen Kunze, Markus Uhl, et al.
European Journal of Medical Genetics|June 28, 2015
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutationDenise Horn, Trine Prescott, Gunnar Houge, et al.
JCI Insight|December 7, 2018
A common pathomechanism in GMAP-210- and LBR-related diseasesAnika Wehrle, Tomasz M Witkos, Judith C Schneider, et al.
American Journal of Human Genetics|July 21, 2009
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasiaEkkehart Lausch, Romy Keppler, Katja Hilbert, et al.
Pageof 3

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

Sort By:
Pageof 3
Pediatric Endocrinology Reviews : PER|January 3, 2018
Guiding Registry for Skeletal Dysplasia. Rational Approach in ClassificationBernhard Zabel, Jürgen Spranger
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Enchondromatosis revisited: new classification with molecular basisAndrea Superti-Furga, Jürgen Spranger, Gen Nishimura
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 2, 2014
Autopsy observations in lethal short-rib polydactyly syndromesPatricia Okiro, Helen Wainwright, Jürgen Spranger, et al.
European Journal of Pediatrics|November 2, 2004
Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosisRalph Melchior, Bernard Zabel, Jürgen Spranger, et al.
Pediatric Pathology & Molecular Medicine|April 12, 2003
Grebe dysplasia and the spectrum of CDMP1 mutationsChristiane Stelzer, Andreas Winterpacht, Jürgen Spranger, et al.
Human Mutation|July 13, 2006
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTGStephan Tiede, Michael Cantz, Jürgen Spranger, et al.
Pediatric Radiology|September 10, 2003
Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton typeLuitgard Neumann, Jürgen Kunze, Markus Uhl, et al.
European Journal of Medical Genetics|June 28, 2015
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutationDenise Horn, Trine Prescott, Gunnar Houge, et al.
JCI Insight|December 7, 2018
A common pathomechanism in GMAP-210- and LBR-related diseasesAnika Wehrle, Tomasz M Witkos, Judith C Schneider, et al.
American Journal of Human Genetics|July 21, 2009
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasiaEkkehart Lausch, Romy Keppler, Katja Hilbert, et al.
Pageof 3