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Refinado por: autor: Freitas, E remover autor: Rosenberg, C remover
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1
Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss
Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss
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Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss

Erika L Freitas Jeanne Oiticica; Amanda G Silva; Roseli Saraiva Moreira Bittar; Carla Rosenberg; Regina Celia Mingroni Netto

European Journal of Medical Genetics Issy les Moulineaux v. 57, n. 4, p. 125-128, Mar. 2014

Issy les Moulineaux 2014

Item não circula. Consulte sua biblioteca.(Acessar)

2
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
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A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate

Giselle Izzo Erika L Freitas; Ana Cristina Victorino Krepischi; Peter L Pearson; Luciana R Vasques; Maria Rita Passos-Bueno; Débora R Bertola; Carla Rosenberg

European Journal of Medical Genetics Issy les Moulineaux v. 56, n. 4, p. 222-225, Apr. 2013

Issy Les Mouleneaux 2013

Item não circula. Consulte sua biblioteca.(Acessar)

3
Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum
Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum
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Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum

Pollyanna Almeida Costa dos Santos Silviene Fabiana de Oliveira; Erika L Freitas; Heloisa Pires Neto Safatle; Carla Rosenberg; Iris Ferrari; Juliana Forte Mazzeu

American Journal of Medical Genetics. Part A Hoboken v. 164, n. 2, p. 551–553, Feb. 2013

Hoboken 2013

Item não circula. Consulte sua biblioteca.(Acessar)

4
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
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Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization

Erika L Freitas Susan M Gribble; Milena Simioni; Társis P Vieira; Roseane L Silva-Grecco; Marly A. S Balarin; Elena Prigmore; Ana Cristina Victorino Krepischi; Carla Rosenberg; Karoly Szuhai Haeringen Arie van; Nigel P Carter; Vera Lúcia Gil-da-Silva-Lopes

American Journal of Medical Genetics Part A Hoboken, v. 155, n. 11, p. 2754-2761, Nov. 2011

Hoboken 2011

Item não circula. Consulte sua biblioteca.(Acessar)

5
A familial case with interstitial 2q36 deletion variable phenotypic expression in full and mosaic state
A familial case with interstitial 2q36 deletion variable phenotypic expression in full and mosaic state
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Artigo 		Adicionar ao Meu Espaço

A familial case with interstitial 2q36 deletion variable phenotypic expression in full and mosaic state

Erika L Freitas Susan M Gribble; Milena Simioni; Társis P Vieira; Elena Prigmore; Ana Cristina Victorino Krepischi; Carla Rosenberg; Peter L Pearson; Débora G Melo; Vera Lúcia Gil-da-Silva Lopes

European Journal of Medical Genetics Issy les Moulineaux v. 55, n. 11, p.660-665, Nov. 2012

Issy les Moulineaux 2012

Item não circula. Consulte sua biblioteca.(Acessar)

6
Genomic copy number alterations in non-syndromic hearing loss
Genomic copy number alterations in non-syndromic hearing loss
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Genomic copy number alterations in non-syndromic hearing loss

Carla Rosenberg E L Freitas; D. T Uehara; M T B M Auricchio; S. S Costa; J Oiticica; A G Silva; Ana Cristina Victorino Krepischi; Regina Celia Mingroni Netto

Clinical Genetics Hoboken v. 89, n. 4, p. 473-477, Apr. 2017

Hoboken 2015

Item não circula. Consulte sua biblioteca.(Acessar)

7
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
Material Type:
Artigo 		Adicionar ao Meu Espaço

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization

Erika L Freitas Susan M Gribble; Milena Simioni; Társis P Vieira; Roseane L Silva-Grecco; Marly A. S Balarin; Elena Prigmore; Ana Cristina Krepischi-Santos; Carla Rosenberg; Karoly Szuhai Haeringen Arie van; Nigel P Carter; Vera Lúcia Gil-da-Silva-Lopes

American Journal of Medical Genetics Part A Hoboken, v. 155, n. 11, p. 2754-2761, Nov. 2011

Hoboken 2011

Item não circula. Consulte sua biblioteca.(Acessar)

8
Duplication of EYA1 causes Branchiootic Syndrome in a Brazilian family
Duplication of EYA1 causes Branchiootic Syndrome in a Brazilian family
Material Type:
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Duplication of EYA1 causes Branchiootic Syndrome in a Brazilian family

Regina Celia Mingroni Netto V. G. L Dantas; E.L Freitas; A. M. S. M Moraes; M. C. C Braga; S. B Ramos; Carla Rosenberg; V.A Della-Rosa; Annual Meeting of the American Society of Human Genetics 2013 Boston

Abstracts Boston, 2013

Boston 2014

Acesso online

9
Array-CGH analysis in patients with Goldenhar Syndrome
Array-CGH analysis in patients with Goldenhar Syndrome
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Array-CGH analysis in patients with Goldenhar Syndrome

S. Sánchez E.L Freitas; H.P.N Safatle; Carla Rosenberg; L Ferrari; S.F Oliveira; J.F Mazzeu; Annual Meeting of the American Society of Human Genetics 62 2012 San Francisco

Posters: Cytogenetics San Francisco: ASHG, 2012

São Francisco 2012

Acesso online

10
Whole-genome array-CGH screening in patients with autosomal dominant sensorineural hearing loss points to novel susceptibility loci
Whole-genome array-CGH screening in patients with autosomal dominant sensorineural hearing loss points to novel susceptibility loci
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Whole-genome array-CGH screening in patients with autosomal dominant sensorineural hearing loss points to novel susceptibility loci

E.L. Freitas D.T Uehara; V.G.L Dantas; A.G Silva; Ana Cristina Victorino Krepischi; Regina Celia Mingroni Netto; Carla Rosenberg; Annual Meeting of the American Society of Human Genetics 62 2012 San Francisco

Posters: Cytogenetics San Francisco: ASHG, 2012

São Francisco 2012

Acesso online

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Deste Autor:

  1. Freitas, E
  2. Rosenberg, C
  3. Krepischi, A
  4. Mingroni Netto, R
  5. Gribble, S

Neste Assunto:

  1. Doenças Genéticas
  2. Perda Auditiva
  3. Genética Médica
  4. Mutação Genética
  5. Anomalia Dentária

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

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