Results 251 to 260 of about 62,388 (273)

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

American Journal of Obstetrics and Gynecology, 2018
Ravi Savarirayan, Julie E Hoover-Fong, Viviana Bompadre   +2 more
exaly  

Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development

Cell, 1997
Tessa Crompton, Stefan Mundlos, Bjorn R Olsen   +2 more
exaly  

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

Cell, 1994
Jutta Wirth, Niels Tommerup, Gerd Scherer   +2 more
exaly  

Skeletal dysplasias

2007
openaire   +2 more sources

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

Human Mutation, 2001
Antonio Rossi, Andrea Superti-Furga
exaly  

Skeletal dysplasia

2005
Helen V. Firth, Jane A. Hurst, Judith G. Hall   +2 more
openaire   +1 more source

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24

Bone, 2010
Maria Rosaria D'Apice, Giuseppe Novelli
exaly  

Dysplasia, Carcinoma in Situ, and Early Invasive Cervical Carcinoma

Ca-A Cancer Journal for Clinicians, 1984
exaly  

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

Nature Genetics, 2011
Yasemin Alanay, Christian A Hübner, Raffaele Renella   +2 more
exaly  

Cervical Intraepithelial Neoplasia (Dysplasia and Carcinoma in Situ) And Early Invasive Cervical Carcinoma

Ca-A Cancer Journal for Clinicians, 1989
exaly