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Andrea Superti-Furga

Showing results (141-150 of 234) with videos related to

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American Journal of Human Genetics|June 2, 2009
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1Dan Hanson, Philip G Murray, Amit Sud, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|March 7, 2016
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's DiseaseLuisa Bonafé, Ariana Kariminejad, Jia Li, et al.
Journal of Medical Genetics|November 2, 2010
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variantTatsuya Furuichi, Jin Dai, Tae-Joon Cho, et al.
Bone|November 19, 2018
Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypesEliza Thompson, Ebtesam Abdalla, Andrea Superti-Furga, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctataMichelle Nino, Claudia Matos-Miranda, Momoe Maeda, et al.
Genes|February 25, 2022
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological FeaturesSimonetta Rosato, Sheila Unger, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A|May 23, 2013
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomalyLivia Garavelli, Graziella Simonte, Simonetta Rosato, et al.
Scientific Reports|September 30, 2021
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophiesAtta Ur Rehman, Neda Sepahi, Nicola Bedoni, et al.
Human Mutation|September 8, 2016
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint LaxityJulia Vodopiutz, Shuji Mizumoto, Ekkehart Lausch, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Axial spondylometaphyseal dysplasia: additional reportsShigeru Suzuki, Ok-Hwa Kim, Yoshio Makita, et al.
Pageof 24

Showing results (141-150 of 234) with videos related to

Sort By:
Pageof 24
American Journal of Human Genetics|June 2, 2009
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1Dan Hanson, Philip G Murray, Amit Sud, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|March 7, 2016
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's DiseaseLuisa Bonafé, Ariana Kariminejad, Jia Li, et al.
Journal of Medical Genetics|November 2, 2010
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variantTatsuya Furuichi, Jin Dai, Tae-Joon Cho, et al.
Bone|November 19, 2018
Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypesEliza Thompson, Ebtesam Abdalla, Andrea Superti-Furga, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctataMichelle Nino, Claudia Matos-Miranda, Momoe Maeda, et al.
Genes|February 25, 2022
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological FeaturesSimonetta Rosato, Sheila Unger, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A|May 23, 2013
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomalyLivia Garavelli, Graziella Simonte, Simonetta Rosato, et al.
Scientific Reports|September 30, 2021
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophiesAtta Ur Rehman, Neda Sepahi, Nicola Bedoni, et al.
Human Mutation|September 8, 2016
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint LaxityJulia Vodopiutz, Shuji Mizumoto, Ekkehart Lausch, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Axial spondylometaphyseal dysplasia: additional reportsShigeru Suzuki, Ok-Hwa Kim, Yoshio Makita, et al.
Pageof 24