Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Carrie Zabel"'
Autor:
Dina J. Zand, Jeffrey A. Cleveland, Patrick M. A. Sleiman, Denise W. Metry, Lifeng Tian, Eniko Papp, Hakon Hakonarson, Nada Abdel-Magid, Cecilia E. Kim, Yiran Guo, Sandra Catalina Camacho, Elaine H. Zackai, Dong Li, Elizabeth McPherson, Jean-Christophe Fournet, Guy Vaksmann, Cyril Morisot, Olga Camacho-Vanegas, Brendan J. Keating, Maria Celeste M. Ramirez, David B. Everman, Ben Tweddale, Frederick G. Otieno, Carrie Zabel, John A. Martignetti, Cuiping Hou, Audrey M. Bernstein, Sandra K. Masur
Publikováno v:
The American Journal of Human Genetics. 92(6):1001-1007
Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f973fceeac5e1e60209505167624ba
Autor:
Philip F. Giampietro, J. Britt Ravnan, Teresa Silberman, David DeBauche, Bhavana J. Dave, Deepti Babu, Carrie Zabel, Ivan Zador
Publikováno v:
American Journal of Medical Genetics Part A. :385-387
Philip F. Giampietro,* Deepti Babu, Carrie A. Zabel, Teresa Silberman, Ivan Zador, David DeBauche, J. Britt Ravnan, and Bhavana J. Dave Department of Medical Genetic Services, Marshfield, Wisconsin Department of Pediatrics, Marshfield Clinic, Marshfi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7a4a3b14f62a3114dcf826dcd8a3bac
https://doi.org/10.1002/ajmg.a.31067
https://doi.org/10.1002/ajmg.a.31067
Autor:
Karlene Coleman, Brian J. Forbes, Gil Binenbaum, Amy M. Mach, Donna M. McDonald-McGinn, Margaret P Adam, Deborah Alcorn, B. Michael Walker, Carrie Zabel, Elaine H. Zackai, Melanie A. Manning, Dennis R. Anderson
Reported ocular findings in the 22q11.2 deletion syndrome (which encompasses the phenotypes of DiGeorge, velocardiofacial, and Takao (conotruncal-anomaly-face) syndromes) have included posterior embryotoxon (prominent, anteriorly displaced Schwalbe's
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21f5051648e4cc6d4deab590709730f7
https://europepmc.org/articles/PMC2831198/
https://europepmc.org/articles/PMC2831198/
Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism
Publikováno v:
American journal of medical genetics. Part A. (2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::821ce2bac86a8a6a6b85f389956fe59f
https://pubmed.ncbi.nlm.nih.gov/18080325
https://pubmed.ncbi.nlm.nih.gov/18080325
Autor:
Carrie Zabel, Elizabeth McPherson
Publikováno v:
American Journal of Medical Genetics Part A. :184-185
A 15-year-old girl presented with stroke and was found to have a mitochondrial mutation MELAS T3271C. As an infant, she had required casting and surgery for clubbed feet as well as physical therapy for camptodactyly and adducted thumbs. Despite some
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70846525d1502b54992825b2d44cd403
https://doi.org/10.1002/ajmg.a.31041
https://doi.org/10.1002/ajmg.a.31041
Publikováno v:
Journal of Clinical Densitometry. 9:230
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d84d0b5fedcb6bb274a483b174c7fdf3
https://doi.org/10.1016/j.jocd.2006.04.016
https://doi.org/10.1016/j.jocd.2006.04.016