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Jürgen Spranger

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American Journal of Medical Genetics. Part A|August 19, 2004
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1Andreas Zankl, Bernhard Zabel, Katja Hilbert, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variantMasaki Takagi, Naoaki Hori, Yasutsugu Chinen, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Clinical and radiographic delineation of odontochondrodysplasiaSheila Unger, Franco Antoniazzi, Milena Brugnara, et al.
American Journal of Human Genetics|December 11, 2008
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndromeEkkehart Lausch, Pia Hermanns, Henner F Farin, et al.
European Journal of Medical Genetics|January 25, 2019
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutationZoran Gucev, Velibor Tasic, Ivona Bogevska, et al.
American Journal of Medical Genetics. Part A|September 24, 2015
Nosology and classification of genetic skeletal disorders: 2015 revisionLuisa Bonafe, Valerie Cormier-Daire, Christine Hall, et al.
American Journal of Human Genetics|October 28, 2005
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulatorChristian T Thiel, Denise Horn, Bernhard Zabel, et al.
American Journal of Human Genetics|June 3, 2008
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosisPia Hermanns, Sheila Unger, Antonio Rossi, et al.
Journal of Medical Genetics|April 9, 2016
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneityAritoshi Iida, Weirong Xing, Martine K F Docx, et al.
Journal of Medical Genetics|June 3, 2015
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan typeRicarda Flöttmann, Johannes Wagner, Karolina Kobus, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|August 19, 2004
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1Andreas Zankl, Bernhard Zabel, Katja Hilbert, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variantMasaki Takagi, Naoaki Hori, Yasutsugu Chinen, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Clinical and radiographic delineation of odontochondrodysplasiaSheila Unger, Franco Antoniazzi, Milena Brugnara, et al.
American Journal of Human Genetics|December 11, 2008
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndromeEkkehart Lausch, Pia Hermanns, Henner F Farin, et al.
European Journal of Medical Genetics|January 25, 2019
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutationZoran Gucev, Velibor Tasic, Ivona Bogevska, et al.
American Journal of Medical Genetics. Part A|September 24, 2015
Nosology and classification of genetic skeletal disorders: 2015 revisionLuisa Bonafe, Valerie Cormier-Daire, Christine Hall, et al.
American Journal of Human Genetics|October 28, 2005
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulatorChristian T Thiel, Denise Horn, Bernhard Zabel, et al.
American Journal of Human Genetics|June 3, 2008
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosisPia Hermanns, Sheila Unger, Antonio Rossi, et al.
Journal of Medical Genetics|April 9, 2016
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneityAritoshi Iida, Weirong Xing, Martine K F Docx, et al.
Journal of Medical Genetics|June 3, 2015
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan typeRicarda Flöttmann, Johannes Wagner, Karolina Kobus, et al.
Pageof 3