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11
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements
Material Type:
Artigo 		Adicionar ao Meu Espaço

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements

Carla S. D'Angelo Marzena Gajecka; Chong A Kim; Andrew J Gentles; Caron D Glotzbach; Lisa G Shaffer; Célia Priszkulnik Koiffmann

Human Genetics v. 125, n. 6, p. 551-563, 2009

Heidelberg 2009

Item não circula. Consulte sua biblioteca.(Acessar)

12
Burden of rare copy number variants in microcephaly a Brazilian cohort of 185 microcephalic patients and review of the literature
Burden of rare copy number variants in microcephaly a Brazilian cohort of 185 microcephalic patients and review of the literature
Material Type:
Artigo 		Adicionar ao Meu Espaço

Burden of rare copy number variants in microcephaly a Brazilian cohort of 185 microcephalic patients and review of the literature

Giovanna Cantini Tolezano Giovanna Civitate Bastos; Silvia Souza da Costa; Bruna Lucheze Freire; Thais Kataoka Homma; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Maria Rita Passos-Bueno; Celia Priszkulnik Koiffmann; Chong Ae Kim; Angela M Vianna-Morgante; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Carla Rosenberg; Ana Cristina Victorino Krepischi

Journal of Autism and Developmental Disorders New York on-line, 2022

New York 2022

Item não circula. Consulte sua biblioteca.(Acessar)

13
Shwachman syndrome (mckusick 26040) a chromosome breakage syndrome?
Shwachman syndrome (mckusick 26040) a chromosome breakage syndrome?
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Shwachman syndrome (mckusick 26040) a chromosome breakage syndrome?

Celia Priszkulnik Koiffmann Claudette Hajaj Gonzalez; D. H Souza; E G Romani; C A Kim; Anita Wajntal; Congresso Nacional de Genetica (36. 1990 Caxambu); Workshop Latino-Americano da Associacao Latino-Americana de Mutagenese, Carcinogenese e Teratogenese Ambiental (1. 1990 Caxambu)

Programa e Resumos Rio de Janeiro : Sociedade Brasileira de Genetica, 1990

Rio de Janeiro Sociedade Brasileira de Genetica 1990

Localização: FM - Fac. Medicina    (BCSEP 1990 277 )(Acessar)

14
Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR
Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR
Material Type:
Artigo 		Adicionar ao Meu Espaço

Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR

Pricila Silva Cunha Heloisa B Pena; Carla Sustek D'Angelo; Celia Priszkulnik Koiffmann; Jill A Rosenfeld; Lisa G Shaffer; Martin Stofanko; Higgor Gonçalves-Dornelas; Sérgio Danilo Junho Pena

Disease Markers New York online, art. ID 836082, p. 1-8, 2014

New York 2014

Item não circula. Consulte sua biblioteca.(Acessar)

15
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]

Amanda G Silva Ana Cristina Victorino Krepischi; Giovana T Torrezan; Leonardo P Capelli; Dirce M Carraro; Carla S D'Angelo; Celia Priszkulnik Koiffmann; Mayana Zatz; Michel Naslavsky; Cibele Masotti; Paulo A Otto; Maria I. W Achatz; Ryan E Mills; Charles Lee; Peter L Pearson; Carla Rosenberg

European Journal of Human Genetics London online, p. 1-3 on-line, 2013

London 2013

Item não circula. Consulte sua biblioteca.(Acessar)

16
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants models for Xia-Gibbs syndrome
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants models for Xia-Gibbs syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants models for Xia-Gibbs syndrome

Laura Machado Lara Carvalho Elisa Varella Branco; Raquel Delgado Sarafian; Gerson Shigeru Kobayashi; Fabiano Tófoli de Araújo; Lucas Santos Souza; Danielle de Paula Moreira; Gabriella Shih Ping Hsia; Eny Maria Goloni Bertollo; Cecília Barbosa Buck; Silvia Souza da Costa; Davi Mendes Fialho; Felipe Tadeu Galante Rocha de Vasconcelos; Luciano Abreu Brito; Luciana Elena de Souza Fraga Machado; Igor Cabreira Ramos; Lygia da Veiga Pereira; Celia Priszkulnik Koiffmann; Maria Rita Passos-Bueno; Tiago Antonio de Oliveira Mendes; Ana Cristina Victorino Krepischi; Carla Rosenberg

Gene Amsterdam v. 871, art. 147424, 2023

Amsterdam 2023

Item não circula. Consulte sua biblioteca.(Acessar)

17
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
Material Type:
Artigo 		Adicionar ao Meu Espaço

Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

Fernanda S Jehee Valdirene T. de Oliveira; Juliana Gurgel Giannetti; Rafaella X Pietra; Fernando V. M Rubatino; Natália V Carobin; Gabrielle S Vianna; Mariana L. de Freitas; Karla S Fernandes; Beatriz S. V Ribeiro; Hennie T Brüggenwirth; Roza Ali-Amin; Janson J White; Zeynep C Akdemir; Shalini N Jhangiani; Richard A Gibbs; James R Lupski; Monica C Varela; Celia Priszkulnik Koiffmann; Carla Rosenberg; Cláudia M. B Carvalho; Baylor-Hopkins Center for Mendelian Genomics

American Journal of Medical Genetics. Part A Hoboken online, p. 1-5, June 2017

Hoboken 2017

Item não circula. Consulte sua biblioteca.(Acessar)

18
EE574 Innovative Mechanisms of Pre-Market Authorization Access for Rare Diseases in Brazil. a Case Study of Pabinafusp-Alfa for Mucopolysaccharidosis Type II
EE574 Innovative Mechanisms of Pre-Market Authorization Access for Rare Diseases in Brazil. a Case Study of Pabinafusp-Alfa for Mucopolysaccharidosis Type II
Material Type:
Artigo 		Adicionar ao Meu Espaço

EE574 Innovative Mechanisms of Pre-Market Authorization Access for Rare Diseases in Brazil. a Case Study of Pabinafusp-Alfa for Mucopolysaccharidosis Type II

Tanaka, E. ; Falavigna, M. ; Romcy, M.H. ; Priszkulnik, G. ; Santos, M. ; Daher, A. ; Maia, E.

Value in health, 2023-06, Vol.26 (6), p.S164-S164 [Periódico revisado por pares]

Elsevier Inc

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Deste Autor:

  1. Koiffmann, C
  2. Kim, C
  3. Varela, M
  4. Rosenberg, C
  5. Lopes, G

Neste Assunto:

  1. Genética Médica
  2. Doenças Genéticas
  3. Retardo Mental
  4. Deleção De Genes
  5. Fenótipos

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.