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Practical implications of using non-relational databases to store large genomic data files and novel phenotypesAndré Moreira Souza Rodrigo de Andrade Santos Weigert; Elaine Parros Machado de Sousa; Lucas Tassoni Andrietta; Ricardo Vieira VenturaJournal of Animal Breeding and Genetics Berlin v. 139, n. 1, p. 100-112, Jan. 2022Berlin 2022Localização: FMVZ - Fac. Med. Vet. e Zootecnia (VEN - 20 ) e outros locais(Acessar) |
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Different selection practices affect the environmental sensitivity of beef cattleAnielly de Paula Freitas Mário Luiz Santana Júnior; Flavio Schramm Schenkel; Maria Eugênia Zerlotti Mercadante; Joslaine Noely dos Santos Goncalves Cyrillo; Cláudia Cristina Paro de PazPLOS ONE San Francisco v. 16, n. 4, art. e0248186, p. 1-18, 2021San Francisco 2021Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 3046402 Acervo Digital )(Acessar) |
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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a Recessive Ataxia (ARSAL) in humansVafa Bayat Isabelle Thiffault; Manish Jaiswal; Martine Tétreault; Taraka Donti; Florin Sasarman; Geneviève Bernard; Julie Demers-Lamarche; Marie-Josée Dicaire; Jean Mathieu; Michel Vanasse; Jean-Pierre Bouchard; Marie-France Rioux; Charles Marques Lourenço; Zhihong Li; Claire Haueter; Eric A Shoubridge; Brett H Graham; Bernard Brais; Hugo J BellenPLOS Biology San Francisco v. 10, n. 3, art. e1001288, p. 1-19, 2012San Francisco 2012Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 3048570 Acervo Digital )(Acessar) |
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P‐TS‐26 | Diagnosis of Oh (Bombay) Phenotype in a Pregnant PatientPogue, E. ; Leaver, A. ; Jones, J. ; Laghari, S. ; Hall, E. ; Andrews, J. ; Sharma, D.Transfusion (Philadelphia, Pa.), 2023-10, Vol.63 (S5), p.272A-273A [Periódico revisado por pares]Bethesda: Wiley Subscription Services, IncTexto completo disponível |
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OA2‐AM23‐TU‐13 | Implications For Management Of RhIG and Transfusion: Highlighting RHD Alleles DAU4 and DV.5 Expressing A Distinctive Serologic PhenotypeKarne, V. ; Jedrzejczak, M. ; Lindholm, P. ; Ramsey, G. ; Hudgins, J.Transfusion (Philadelphia, Pa.), 2023-10, Vol.63 (S5), p.66A-66A [Periódico revisado por pares]Bethesda: Wiley Subscription Services, IncTexto completo disponível |
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High number of candidate gene variants are identified as disease‐causing in a period of 4yearsHills, Sonia ; Li, Qifei ; Madden, Jill A ; Genetti, Casie A ; Brownstein, Catherine A ; Klaus Schmitz‐Abe ; Beggs, Alan H ; Agrawal, Pankaj BAmerican journal of medical genetics. Part A, 2024-05, Vol.194 (5) [Periódico revisado por pares]Hoboken: Wiley Subscription Services, IncTexto completo disponível |
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Novel KEL02M allele in Austria encoding a Kmod phenotypePolin, Helene ; Dal‐Pont, Christian ; Schennach, Harald ; Vales, Anja ; Steitzer, Hansjörg ; Danzer, MartinTransfusion (Philadelphia, Pa.), 2022-02, Vol.62 (2), p.E8-E9 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Ex‐vivo comparison of three different gingival phenotype assessment methods – preliminary resultsFischer, Kai ; Büchel, Jasmin ; Schmidlin, PatrickClinical oral implants research, 2020-10, Vol.31 (S20), p.140-140 [Periódico revisado por pares]Brussels: Wiley Subscription Services, IncTexto completo disponível |
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Variability of non‐lethal Fowler syndrome phenotype associated with FLVCR2 variantsAl‐Murshedi, Fathiya ; Mirza, Hassan ; Al‐Saegh, Abeer ; Al‐Nabhani, Maryam ; Al‐Shabibi, Saud ; Baawain, Saleh ; Al‐Futaisi, Amna ; Al‐Shehhi, Wafaa ; Al‐Maawali, AlmundherClinical genetics, 2020-11, Vol.98 (5), p.520-521 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Phenotype diversity associated with TP63 mutationsSchmetz, Ariane ; Xiong, Xing ; Cesarato, Nicole ; Basmanav, Fitnat Buket ; Gierthmuehlen, Petra ; Schaper, Jörg ; Schlieper, Daniel ; Wehner, Maria ; Thiele, Holger ; Frank, Jorge ; Betz, Regina C. ; Redler, SilkeJournal der Deutschen Dermatologischen Gesellschaft, 2022-06, Vol.20 (6), p.872-875 [Periódico revisado por pares]Germany: Wiley Subscription Services, IncTexto completo disponível |