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European Journal of Human Genetics : EJHG
|
April 4, 2003
Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia
Miia Melkoniemi, Hannele Koillinen, Minna Männikkö, et al.
American Journal of Human Genetics
|
November 5, 2013
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia
Céline Huber, Sulin Wu, Ashley S Kim, et al.
Human Mutation
|
October 26, 2017
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
Wenjuan Zhang, S Paige Taylor, Hayley A Ennis, et al.
Ebiomedicine
|
November 26, 2020
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia
Maya Barad, Fabiana Csukasi, Michaela Bosakova, et al.
American Journal of Human Genetics
|
November 2, 2010
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
Stuart W Tompson, Carlos A Bacino, Nicole P Safina, et al.
Plos One
|
May 21, 2010
Generalized connective tissue disease in Crtap-/- mouse
Dustin Baldridge, Jennifer Lennington, MaryAnn Weis, et al.
Scientific Reports
|
February 17, 2017
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis
Jennifer Zieba, Wenjuan Zhang, Jessica X Chong, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 10, 2011
Mutations in SERPINF1 cause osteogenesis imperfecta type VI
Erica P Homan, Frank Rauch, Ingo Grafe, et al.
American Journal of Medical Genetics. Part A
|
June 1, 2016
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges
Deborah Krakow, Daniel H Cohn, William R Wilcox, et al.
Nature Medicine
|
October 24, 2007
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human
Shuichi Hiraoka, Tatsuya Furuichi, Gen Nishimura, et al.
Page
of 9
Search research articles
Search
Showing results (51-60 of 81) with videos related to
Sort By:
Page
of 9
European Journal of Human Genetics : EJHG
|
April 4, 2003
Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia
Miia Melkoniemi, Hannele Koillinen, Minna Männikkö, et al.
American Journal of Human Genetics
|
November 5, 2013
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia
Céline Huber, Sulin Wu, Ashley S Kim, et al.
Human Mutation
|
October 26, 2017
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
Wenjuan Zhang, S Paige Taylor, Hayley A Ennis, et al.
Ebiomedicine
|
November 26, 2020
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia
Maya Barad, Fabiana Csukasi, Michaela Bosakova, et al.
American Journal of Human Genetics
|
November 2, 2010
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
Stuart W Tompson, Carlos A Bacino, Nicole P Safina, et al.
Plos One
|
May 21, 2010
Generalized connective tissue disease in Crtap-/- mouse
Dustin Baldridge, Jennifer Lennington, MaryAnn Weis, et al.
Scientific Reports
|
February 17, 2017
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis
Jennifer Zieba, Wenjuan Zhang, Jessica X Chong, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 10, 2011
Mutations in SERPINF1 cause osteogenesis imperfecta type VI
Erica P Homan, Frank Rauch, Ingo Grafe, et al.
American Journal of Medical Genetics. Part A
|
June 1, 2016
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges
Deborah Krakow, Daniel H Cohn, William R Wilcox, et al.
Nature Medicine
|
October 24, 2007
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human
Shuichi Hiraoka, Tatsuya Furuichi, Gen Nishimura, et al.
Page
of 9