Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Karen Brookhyser"'
Autor:
Felicitas Lacbawan, Barbara K. Burton, Mary E. Norton, Erika K. Smith, Maximilian Muenke, Thomas L. Winder, Art Grix, Erich Roessler, Benjamin D. Solomon, Kelly A. Bear, Harald Gaspar, Mauricio R. Delgado, Karen Brookhyser, Ute Hehr, Ntombenhle Louisa Bhengu, Howard M. Saal, Véronique David, Daniel E. Pineda-Alvarez, Amelia A. Keaton, Nancy J. Clegg, Aimee D C Paulussen, Stavit A. Shalev, M. Anne Spence, Elizabeth Thompson, Erin E. Kanetzke, Arthur S. Aylsworth, Carlos Eduardo Steiner, Dafne Horovitz, Holly H. Ardinger, Ellen Sowry, Christèle Dubourg, Adrian Wyllie, Sylvie Odent, Joan Z. Balog, Donald W. Hadley, Dorit Lev, Sandra Mercier, Stephen R. Braddock, Sherri J. Bale, Nan Zhou, Adele Schneider, G B Schaefer, Hülya Kayserili, Sarah M. Nikkel, Richard C. Roberts
Publikováno v:
Journal of Medical Genetics, 49(7), 473-479. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩
Journal of Medical Genetics
Journal of Medical Genetics, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩
Background Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of nonchromoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7ae2cf04578d8379300dd86c0b0920
https://epub.uni-regensburg.de/36148/
https://epub.uni-regensburg.de/36148/
Publikováno v:
American Journal of Obstetrics and Gynecology. 166:1707-1711
OBJECTIVE: It is the purpose of this report to evaluate our experience with amniocentesis at ≤12 weeks' gestation. STUDY DESIGN: Medical records of 936 patients at s12.8 weeks' gestation undergoing genetic amniocentesis between Oct. 1, 1986, and Ju
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d979bea001e75fa36ea2c87851924153
https://doi.org/10.1016/0002-9378(92)91560-w
https://doi.org/10.1016/0002-9378(92)91560-w
Autor:
Karen Brookhyser, Ann B. Moser, Hugo W. Moser, Ralph S. Lachman, Mark H. Lipson, David L. Rimoin
Publikováno v:
Prenatal Diagnosis. 19:383-385
Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a192b01764d9cd19aadb7eb9251513f5
https://doi.org/10.1002/(sici)1097-0223(199904)19:4<383::aid-pd544>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199904)19:4<383::aid-pd544>3.0.co
Publikováno v:
American journal of perinatology. 10(4)
We report a case of third trimester spontaneous resolution of a nuchal cystic hygroma with pleural effusion in a fetus with Turner syndrome (45,X). The neonatal health of the infant was good. Our case description exemplifies difficult counseling issu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cda30d60879a97daec21abbef1a03b22
https://pubmed.ncbi.nlm.nih.gov/8397566
https://pubmed.ncbi.nlm.nih.gov/8397566