المؤلفون: J.J. Johnston, I. Olivos-Glander, C. Killoran, E. Elson, J.T. Turner, K.F. Peters, M.H. Abbott, D.J. Aughton, A.S. Aylsworth, M.J. Bamshad, C. Booth, C.J. Curry, A. David, M.B. Dinulos, D.B. Flannery, M.A. Fox, J.M. Graham, D.K. Grange, A.E. Guttmacher, M.C. Hannibal, W. Henn, R.C.M. Hennekam, L.B. Holmes, H.E. Hoyme, K.A. Leppig, A.E. Lin, P. MacLeod, D.K. Manchester, C. Marcelis, L. Mazzanti, E. McCann, M.T. McDonald, N.J. Mendelsohn, J.B. Moeschler, B. Moghaddam, G. Neri, R. Newbury-Ecob, R.A. Pagon, J.A. Philips III, L.S. Sadler, J.M. Stoler, D. Tilstra, C.M. Walsh Vockley, E.H. Zackai, T.M. Zadeh, L. Brueton, G.C.M. Black, L.G. Biesecker

المصدر: American Journal of Human Genetics (00029297) vol.76 (2005) nr.4 p.609-622

Relation: http://hdl.handle.net/11245/1.251330

الاتاحة: http://hdl.handle.net/11245/1.251330

المؤلفون: R.A. Pagon

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c186200176e201aa67410cb50f035a8c
https://doi.org/10.1016/b978-0-12-374984-0.00267-9

المؤلفون: Helen E. Gruber, David L. Rimoin, R.A. Pagon, Ralph S. Lachman, L.J. Witcoff, D. Ferry, E. Flaum, Mordechai Shohat

المصدر: The Journal of Pediatrics. 117:227-232

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Contracture, Adolescent, Heart Valve Diseases, Genes, Recessive, Short stature, medicine, Lysosomal storage disease, Humans, Child, Growth Disorders, business.industry, Cartilage, Long philtrum, Anatomy, Airway obstruction, medicine.disease, Facial Expression, Stenosis, medicine.anatomical_structure, Dysplasia, Child, Preschool, Pediatrics, Perinatology and Child Health, Tricuspid valve stenosis, Female, medicine.symptom, Tracheal Stenosis, business, Metabolism, Inborn Errors, Psychomotor Performance, Hepatomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9020ecb829c7b14256ef00ffb2fae928
https://doi.org/10.1016/s0022-3476(05)80534-7

المؤلفون: N. Hanson, B.W. Popovich, R.A. Pagon

المصدر: Genetics in Medicine. 2:54

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2a81d1561ef849ddd96794167d6056ce
https://doi.org/10.1097/00125817-200001000-00034

المؤلفون: Charles E Schwartz, Angela Peron, Mary Jo Kutler

المساهمون: M.P. Adam, H.H. Ardinger, R.A. Pagon, S.E. Wallace, L.J.H. Bean, K. Stephen, A. Amemiya, C. E Schwartz, A. Peron, M. Jo Kutler

مصطلحات موضوعية: Settore MED/03 - Genetica Medica

Relation: ispartofbook:GeneReviews®; firstpage:1; lastpage:15; numberofpages:15; serie:GENEREVIEWS; alleditors:M.P. Adam, H.H. Ardinger, R.A. Pagon, S.E. Wallace, L.J.H. Bean, K. Stephens, A. Amemiya; http://hdl.handle.net/2434/760052; https://www.ncbi.nlm.nih.gov/books/NBK144284/

الاتاحة: http://hdl.handle.net/2434/760052
https://www.ncbi.nlm.nih.gov/books/NBK144284/

المؤلفون: E. Sock

المساهمون: R.a. Pagon

الاتاحة: https://biblio.vub.ac.be/vubir/loss-of-dnadependent-dimerization-of-the-transcription-factor-sox9-as-a-cause-of-campomelic-dysplasia(d120812f-7146-4743-bac0-b6923b2469fa).html