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1
Genomic Disorders
Genomic Disorders
Genomic Disorders
Material Type:
Livro 		Adicionar ao Meu Espaço

Genomic Disorders

James R. Stankiewicz, Pawel T. Lupski, James R. Lupski James R Lupski; Pawel T Stankiewicz

Humana Press 2006

Acesso online. A biblioteca também possui exemplares impressos.

2
Genomics of Rare Diseases
Genomics of Rare Diseases
Material Type:
Livro 		Adicionar ao Meu Espaço

Genomics of Rare Diseases

Claudia Gonzaga-Jauregui James R Lupski

Academic Press 2021

Acesso online

3
Bacterial Genomes
Bacterial Genomes
Material Type:
Livro 		Adicionar ao Meu Espaço

Bacterial Genomes

Frans J. de Bruijn James R Lupski

Springer US 1998

Acesso online

4
Bacterial genomes physical structure and analysis
Bacterial genomes physical structure and analysis
Material Type:
Livro 		Adicionar ao Meu Espaço

Bacterial genomes physical structure and analysis

F. J. de Bruijn (Frans J. de); James R Lupski 1957-; George M Weinstock 1949-

New York Kluwer Academic 1999, c1998

Localização: CENA - Cent. En. Nuclear na Agricultura    (575.111 B892b 11291 ) e outros locais(Acessar)

5
Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome
Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome

Christopher M Grochowski Ana Cristina Victorino Krepischi; Jesper Eisfeldt; Haowei Du; Debora R Bertola; Danyllo Oliveira; Silvia S Costa; James R Lupski; Anna Lindstrand; Claudia M. B Carvalho

Frontiers in Plant Science Lausanne v. 12,Article 708348, 2021

Lausanne 2021

Item não circula. Consulte sua biblioteca.(Acessar)

6
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Material Type:
Artigo 		Adicionar ao Meu Espaço

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Cláudia M. B. Carvalho Feng Zhang; Pengfei Liu; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Chad Shaw; Sandra Peacock; Amber Pursley; Y. Jane Tavyev; Melissa B Ramocki; Magdalena Nawara; Ewa Obersztyn; Angela M Vianna-Morgante; Pawel Stankiewicz; Huda Y Zoghbi; Sau Wai Cheung; James R Lupski 1957-

Human Molecular Genetics v. 18, n. 12, p. 2188-2203, 2009

Oxford 2009

Item não circula. Consulte sua biblioteca.(Acessar)

7
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

Claudia M.B. Carvalho Shivakumar Vasanth; Marwan Shinawi; Chad Russell; Melissa B Ramocki; Chester W Brown; Jesper Graakjaer; Anne-Bine Skytte; Gayle S Patel; LaDonna Immken; Kyrieckos Aleck; Cynthia Lim; Sau Wai Cheung; Carla Rosenberg; Nicholas Katsanis; James R Lupski

American Journal of Human Genetics v. 95, p. 565-578, 2014

Cambridge 2014

Item não circula. Consulte sua biblioteca.(Acessar)

8
Cytogenetically visible inversions are formed by multiple molecular mechanisms
Cytogenetically visible inversions are formed by multiple molecular mechanisms
Material Type:
Artigo 		Adicionar ao Meu Espaço

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Maria Pettersson Christopher M Grochowski; Josephine Wincent; Jesper Eisfeldt; Amy M Breman; Sau W Cheung; Ana Cristina Victorino Krepischi; Carla Rosenberg; James R Lupski; Jesper Ottosson; Lovisa Lovmar; Jelena Gacic; Elisabeth S Lundberg; Daniel Nilsson; Claudia M. B Carvalho; Anna Lindstrand

Human Mutation Hoboken v. 41, n. 11, p. 1979-1998, 2020

Hoboken 2020

Item não circula. Consulte sua biblioteca.(Acessar)

9
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Material Type:
Artigo 		Adicionar ao Meu Espaço

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Cláudia M. B. Carvalho Feng Zhang; Pengfei Liu; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Chad Shaw; Sandra Peacock; Amber Pursley; Y. Jane Tavyev; Melissa B Ramocki; Magdalena Nawara; Ewa Obersztyn; Angela Maria Vianna-Morgante; Pawel Stankiewicz; Huda Y Zoghbi; Sau Wai Cheung; James R Lupski 1957-

Human Molecular Genetics v. 18, n. 12, p. 2188-2203, 2009

Oxford 2009

Item não circula. Consulte sua biblioteca.(Acessar)

10
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)

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Deste Autor:

  1. Lupski, J
  2. Carvalho, C
  3. Cheung, S
  4. Ramocki, M
  5. Vianna-Morgante, A

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Genetics & Heredity
  5. Female

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

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