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1 |
Material Type: Artigo
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Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndromeForrester, S. ; Kovach, M.J. ; Reynolds, N.M. ; Urban, R. ; Kimonis, V.American journal of medical genetics, 2001-01, Vol.98 (1), p.92-100New York: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Women's interest in genetic testing for breast cancer susceptibility may be based on unrealistic expectationsPress, Nancy A. ; Yasui, Yutaka ; Reynolds, Susan ; Durfy, Sharon J. ; Burke, WylieAmerican journal of medical genetics, 2001-03, Vol.99 (2), p.99-110New York: John Wiley & Sons, IncTexto completo disponível |
3 |
Material Type: Artigo
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Polytopic anomalies with agenesis of the lower vertebral columnBohring, Axel ; Lewin, Susan O. ; Reynolds, James F. ; Voigtländer, Theda ; Rittinger, Olaf ; Carey, John C. ; Köpernik, Michael ; Smith, Rosemarie ; Zackai, Elaine H. ; Leonard, Norma J. ; Gritter, Hilda L. ; Bamforth, J. Stephen ; Okun, Nannette ; McLeod, D. Ross ; Super, Maurice ; Powell, Peter ; Mundlos, Stefan ; Hennekam, Raoul C.M. ; van Langen, Irene M. ; Viskochil, David H. ; Wiedemann, Hans-Rudolf ; Opitz, John M.American journal of medical genetics, 1999-11, Vol.87 (2), p.99-114New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
4 |
Material Type: Artigo
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Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): Report of 11 casesReynolds, James F. ; Daniel, Art ; Kelly, Thaddeus E. ; Gollin, Susanne M. ; Stephan, Mark J. ; Carey, John ; Adkins, William N. ; Webb, Mary Jane ; Char, Florence ; Jimenez, Jorge F. ; Opitz, John M. ; Neri, GiovanniAmerican journal of medical genetics, 1987-06, Vol.27 (2), p.257-274New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
5 |
Material Type: Artigo
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Non-immune hydrops fetalis associated with impaired fetal movement: A case report and reviewRobin, Nathaniel H. ; Curtis, Mark T. ; Mulla, Wadia ; Reynolds, Carol A. ; Anday, Endla ; Rorke, Lucy B. ; Zackai, Elaine H.American journal of medical genetics, 1994-11, Vol.53 (3), p.251-254New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
6 |
Material Type: Artigo
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Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomaliesBavinck, Jan N. Bouwes ; Weaver, David D. ; Opitz, John M. ; Reynolds, James F.American journal of medical genetics, 1986-04, Vol.23 (4), p.903-918New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
7 |
Material Type: Artigo
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Zellweger syndrome: Diagnostic assays, syndrome delineation, and potential therapyWilson, Golder N. ; Holmes, Ronald G. ; Custer, Joseph ; Lipkowitz, Jeffrey L. ; Stover, Joan ; Datta, Nabanita ; Hajra, Amiya ; Reynolds, James F.American journal of medical genetics, 1986-05, Vol.24 (1), p.69-82 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
8 |
Material Type: Artigo
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Neurofibromatosis with fully expressed Noonan syndromeAbuelo, Dianne N. ; Meryash, David L. ; Optiz, John M. ; Reynolds, James F.American journal of medical genetics, 1988-04, Vol.29 (4), p.937-941 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
9 |
Material Type: Artigo
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Neonatal adrenoleukodystrophy: New cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromesKelley, Richard I. ; Datta, Nabanita S. ; Dobyns, William B. ; Hajra, Amiya K. ; Moser, Ann B. ; Noetzel, Michael J. ; Zackai, Elaine H. ; Moser, Hugo W. ; Opitz, John M. ; Reynolds, James F.American journal of medical genetics, 1986-04, Vol.23 (4), p.869-901New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
10 |
Material Type: Artigo
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Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patientsNiikawa, Norio ; Kuroki, Yoshikazu ; Kajii, Tadashi ; Matsuura, Nobuo ; Ishikiriyama, Satoshi ; Tonoki, Hidefumi ; Ishikawa, Nobuyoshi ; Yamada, Yutaka ; Fujita, Masafumi ; Umemoto, Hidehiko ; Iwama, Yoshihiko ; Kondoh, Ikuko ; Fukushima, Yoshimitsu ; Nako, Yasushi ; Matsui, Ichiro ; Urakami, Tatsuhiko ; Aritaki, Sekoiya ; Hara, Michiko ; Suzuki, Yasuyuki ; Chyo, Hiroyuki ; Sugio, Yoshitsugu ; Hasegawa, Tomoko ; Yamanaka, Tsutomu ; Tsukino, Ryuichi ; Yoshida, Akira ; Nomoto, Naoki ; Kawahito, Satomi ; Aihara, Ryozo ; Toyota, Shigeki ; Ieshima, Atsushi ; Funaki, Hiromu ; Ishitobi, Kazuyuki ; Ogura, Satoshi ; Furumae, Toshiaki ; Yoshino, Makoto ; Tsuji, Yoshiro ; Kondoh, Tatsuro ; Matsumoto, Tadashi ; Abe, Kyohko ; Harada, Naoki ; Miike, Teruhisa ; Ohdo, Shozo ; Naritomi, Kenji ; Abushwereb, A. K. ; Braun, O. H. ; Schmid, Erich ; Opitz, John M. ; Reynolds, James F.American journal of medical genetics, 1988-11, Vol.31 (3), p.565-589New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |