skip to main content
Idioma:
Refinado por: autor: Vianna-Morgante, A remover autor: Krepischi, A remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Whole-genome array-CGH screening in undiagnosed syndromic patients old syndromes revisited and new alterations
Whole-genome array-CGH screening in undiagnosed syndromic patients old syndromes revisited and new alterations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Whole-genome array-CGH screening in undiagnosed syndromic patients old syndromes revisited and new alterations

Ana Cristina Victorino Krepischi Angela M Vianna-Morgante; Fernanda Sarquis Jehee; Maria Rita Passos-Bueno; Jeroen Knijnenburg; K Szuhai; W Sloos; Juliana Forte Mazzeu; Fernando Kok; C Cheroki; Paulo A Otto; Regina Celia Mingroni Netto; Monica Castro Varela; Celia Priszkulnik Koiffmann; Chong A Kim; Débora Romeo Bertola; Peter Lees Pearson

Cytogenetic and Genome Research v. 115, n. 3-4, p. 254-261, 2006

Basel 2006

Item não circula. Consulte sua biblioteca.(Acessar)

2
2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment
2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment

Ana Cristina Victorino Krepischi Jeroen Knijnenburg; Débora Romeo Bertola; Chong Ae Kim; Fernando Kok; Angela M Vianna-Morgante; Carla Rosenberg; International Workshop on Fragile X and X-Linked Mental Retardation (14. 2009 Salvador, BA, Brasil)

Abstracts Salvador, 2009

Salvador 2009

Item não circula. Consulte sua biblioteca.(Acessar)

3
An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses
An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses
Material Type:
Artigo 		Adicionar ao Meu Espaço

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

Fernanda Sarquis Jehee Débora Romeo Bertola; Krishan K Yelavarthi; Ana Cristina Victorino Krepischi; Chong Kim; Angela M Vianna-Morgante; Joris R Vermeesch; Maria Rita Passos-Bueno

American Journal of Medical Genetics. Part A v. 143A, n. 16, p. 1912-1918, 2007

New York 2007

Item não circula. Consulte sua biblioteca.(Acessar)

4
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy

Ana Cristina Victorino Krepischi Jeroen Knijnenburg; Debora Romeu Bertola; Chong Ae Kim; Peter Lees Pearson; Emilia Bijlsma; Karoly Szuhai; Fernando Kok; Angela Maria Vianna-Morgante; Carla Rosenberg

Epilepsia Hoboken v. 51 n. 12, p. 2457-2460, dec. 2010

Hoboken 2010

Item não circula. Consulte sua biblioteca.(Acessar)

5
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy

Ana Cristina Victorino Krepischi Jeroen Knijnenburg; Debora Romeu Bertola; Chong Ae Kim; Peter Lees Pearson; Emilia Bijlsma; Karoly Szuhai; Fernando Kok; Angela M Vianna-Morgante; Carla Rosenberg

Epilepsia Hoboken v. 51 n. 12, p. 2457-2460, dec. 2010

Hoboken 2010

Item não circula. Consulte sua biblioteca.(Acessar)

6
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)

7
Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders
Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders

Giovanna Cantini Tolezano Giovanna Civitate Bastos; Silvia Souza da Costa; Marília de Oliveira Scliar; Carolina Fischinger Moura de Souza; Hélio Van Der Linden Jr; Walter Luiz Magalhães Fernandes; Paulo A Otto; Angela M Vianna-Morgante; Luciana Amaral Haddad; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Chong Ae Kim; Carla Rosenberg; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Ana Cristina Victorino Krepischi

Molecular Neurobiology Heidelberg on-line, 2024

Heidelberg 2024

Item não circula. Consulte sua biblioteca.(Acessar)

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Data de Publicação 

De até
Refinar
  1. Antes de2007  (1)
  2. 2007Até2008  (1)
  3. 2009Até2009  (1)
  4. 2010Até2022  (3)
  5. Após 2022  (1)
  6. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Kim, C
  2. Vianna-Morgante, A
  3. Krepischi, A
  4. Bertola, D
  5. Rosenberg, C

Neste Assunto:

  1. Genética
  2. Neurologia
  3. Epilepsia
  4. Anormalidades Cromossômicas
  5. Microcefalia

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

Buscando em bases de dados remotas. Favor aguardar.