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10 families with benign familial hematuria. Considerations on prevalence, genetics and clinical and urine characteristicsLi Volti, S ; D'Avola, M A ; Mollica, FMinerva pediatrica, 1989-07, Vol.41 (7), p.367-370ItalyTexto completo disponível |
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10-Year outcome of childhood epilepsy in well-functioning children and adolescentsJonsson, Pysse ; Eeg-Olofsson, OrvarEuropean journal of paediatric neurology, 2011-07, Vol.15 (4), p.331-337 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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100 Midlife Women With Eating Disorders: A Phenomenological Analysis of EtiologyKally, Zina ; Cumella, Edward J.The Journal of general psychology, 2008-10, Vol.135 (4), p.359-378 [Periódico revisado por pares]United States: HeldrefTexto completo disponível |
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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of NephrolithiasisNesterova, Galina ; Malicdan, May Christine ; Yasuda, Kaori ; Sakaki, Toshiyuki ; Vilboux, Thierry ; Ciccone, Carla ; Horst, Ronald ; Huang, Yan ; Golas, Gretchen ; Introne, Wendy ; Huizing, Marjan ; Adams, David ; Boerkoel, Cornelius F ; Collins, Michael T ; Gahl, William AClinical journal of the American Society of Nephrology, 2013-04, Vol.8 (4), p.649-657 [Periódico revisado por pares]United States: American Society of NephrologyTexto completo disponível |
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13-year period of application of the 13C-urease breath test for determining Helicobacter pylori in Russian clinical practiceRapoport, S I ; Shubina, N AKlinicheskaia meditsina, 2014, Vol.92 (11), p.59 [Periódico revisado por pares]Russia (Federation)Sem texto completo |
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14q(22) deletion in a familial case of anophthalmia with polydactylyAhmad, M.E. ; Dada, Rima ; Dada, Tanuj ; Kucheria, KiranAmerican journal of medical genetics, 2003-07, Vol.120A (1), p.117-122 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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15q Duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGHKoochek, M ; Harvard, C ; Hildebrand, MJ ; Van Allen, M ; Wingert, H ; Mickelson, E ; Holden, JJA ; Rajcan-Separovic, E ; Lewis, MESClinical genetics, 2006-02, Vol.69 (2), p.124-134 [Periódico revisado por pares]Oxford, UK; Malden, USA: Munksgaard International PublishersTexto completo disponível |
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17p duplicated Charcot-Marie-Tooth 1A : Characteristics of a new populationMARQUES, Wilson JR ; FREITAS, Marcos R ; NASCIMENTO, Osvaldo J. M ; OLIVEIRA, Acary B ; CALIA, Leandro ; MELO, Ailton ; LUCENA, Rita ; ROCHA, Vera ; BARREIRA, Amilton AJournal of neurology, 2005-08, Vol.252 (8), p.972-979 [Periódico revisado por pares]Berlin: SpringerTexto completo disponível |
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18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his familyZannolli, R. ; Pierluigi, M. ; Pucci, L. ; Lagrasta, N. ; Gasparre, O. ; Matera, M.R. ; Di Bartolo, R.M. ; Mazzei, M.A. ; Sacco, P. ; Miracco, C. ; de Santi, M.M. ; Aitiani, P. ; Cavani, S. ; Pellegrini, L. ; Fimiani, M. ; Alessandrini, C. ; Galluzzi, P. ; Livi, W. ; Gonnelli, S. ; Terrosi‐Vagnoli, P. ; Zappella, M. ; Morgese, G.American journal of medical genetics. Part A, 2003-01, Vol.116A (2), p.192-199 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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2 familial cases of homocystinuria one of which revealed by fatal hypertensive encephalopathyPousse, H ; Ayachi, R ; Essoussi, A S ; el May, A ; el Amri, HAnnales de pediatrie, 1990-03, Vol.37 (3), p.189 [Periódico revisado por pares]FranceSem texto completo |