Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Bradley G. Schaefer"'
Autor:
John B. Bodensteiner, D. Oshman, Bradley G. Schaefer, J. Wall, O. Rennert, S. Stein, Gary R. Thurnau, O. Brown
Publikováno v:
Clinical Genetics. 30:381-391
We describe a mother and her male infant affected with a craniotubular dysplasia characterized by severe craniofacial hyperostosis and sclerosis with obliteration of paranasal sinuses and foramina of the skull base. Subsequent severe bilateral hearin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a63cc842330998d095feef340b70d91d
https://doi.org/10.1111/j.1399-0004.1986.tb01895.x
https://doi.org/10.1111/j.1399-0004.1986.tb01895.x
Autor:
Matthew T. Sweney, Howard Needelman, Bradley G. Schaefer, John Schmidt, John B. Bodensteiner, Bruce Schroeder
Publikováno v:
Journal of Child Neurology. 21:298-301
We report the natural history of the closure of the cavum septum pellucidum in 47 premature infants. In this study, a cavum septum pellucidum was present in all patients at 25 to 26 weeks' postconceptual age, in keeping with previous reports. The dat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::832f0e35895ea5f16b33687bdd83d301
https://doi.org/10.1177/08830738060210041501
https://doi.org/10.1177/08830738060210041501
Publikováno v:
International Review of Psychiatry. 11:47-55
Intuitively it is understood that persons with mental retardation must have 'something' different about the structure and organization of the central nervous system. In the past, defining what that something might be was usually a high cost, low yiel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9234b49316f535523d9346c13b55a3b7
https://doi.org/10.1080/09540269974519
https://doi.org/10.1080/09540269974519
Autor:
Shrawan Kumar, Bradley G. Schaefer, Michael D. Weston, Henri A. M. Marres, Cor W. R. J. Cremers, Mary Anne Berg, William J. Kimberling
Publikováno v:
Human Mutation. 11:443-449
The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8eb7807a2b3636b7d4c6f3b891fa5cbb
https://doi.org/10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co
Autor:
Bradley G. Schaefer
Publikováno v:
Pediatric Physical Therapy. 13:182-184
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b70b59443a8b3a88b78b8bd734a6570
https://doi.org/10.1097/00001577-200113040-00006
https://doi.org/10.1097/00001577-200113040-00006
Autor:
Shrawan Kumar, William J. Kimberling, Michael D. Weston, Bradley G. Schaefer, Mary Anne Berg, Henri A.M. Marres, Cor W.R.J. Cremers
Publikováno v:
Human Mutation, 11, 443-449
Human Mutation, 11, pp. 443-449
Human Mutation, 11, pp. 443-449
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3201911d1552e1f7065d913b6d90469
https://doi.org/10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.3.CO
https://doi.org/10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.3.CO
