skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Robust animal spirits
Robust animal spirits
Material Type:
Outros 		Adicionar ao Meu Espaço

Robust animal spirits

Antônio Delfim Netto 1928-

S.l. s.n. 200-

Localização: FEA - Fac. Econ. Adm. Contab. e Atuária  ACERVO DELFIM NETTO  (B27.4.8 )(Acessar)

2
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
Material Type:
Artigo 		Adicionar ao Meu Espaço

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Parker, Michael J. ; Fryer, Alan E. ; Shears, Deborah J. ; Lachlan, Katherine L. ; McKee, Shane A. ; Magee, Alex C. ; Mohammed, Shehla ; Vasudevan, Pradeep C. ; Park, Soo-Mi ; Benoit, Valérie ; Lederer, Damien ; Maystadt, Isabelle ; study, DDD ; FitzPatrick, David R.

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2231-2237 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
3
Warsaw Breakage Syndrome – A further report, emphasising cutaneous findings
Warsaw Breakage Syndrome – A further report, emphasising cutaneous findings
Material Type:
Artigo 		Adicionar ao Meu Espaço

Warsaw Breakage Syndrome – A further report, emphasising cutaneous findings

Bailey, Claire ; Fryer, Alan E ; Greenslade, Mark

European journal of medical genetics, 2015-04, Vol.58 (4), p.235-237 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

Texto completo disponível

Citações Citado por
4
Clinical and genetic aspects of KBG syndrome
Clinical and genetic aspects of KBG syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical and genetic aspects of KBG syndrome

Low, Karen ; Ashraf, Tazeen ; Canham, Natalie ; Clayton-Smith, Jill ; Deshpande, Charu ; Donaldson, Alan ; Fisher, Richard ; Flinter, Frances ; Foulds, Nicola ; Fryer, Alan ; Gibson, Kate ; Hayes, Ian ; Hills, Alison ; Holder, Susan ; Irving, Melita ; Joss, Shelagh ; Kivuva, Emma ; Lachlan, Kathryn ; Magee, Alex ; McConnell, Vivienne ; McEntagart, Meriel ; Metcalfe, Kay ; Montgomery, Tara ; Newbury-Ecob, Ruth ; Stewart, Fiona ; Turnpenny, Peter ; Vogt, Julie ; Fitzpatrick, David ; Williams, Maggie ; Smithson, Sarah

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2835-2846 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
5
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review
Material Type:
Artigo 		Adicionar ao Meu Espaço

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review

Pittaway, James F H ; Harrison, Christopher ; Rhee, Yumie ; Holder-Espinasse, Muriel ; Fryer, Alan E ; Cundy, Tim ; Drake, William M ; Irving, Melita D

Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.47-47, Article 47 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
6
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals
Material Type:
Artigo 		Adicionar ao Meu Espaço

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

Foster, Alison ; Zachariou, Anna ; Loveday, Chey ; Ashraf, Tazeen ; Blair, Edward ; Clayton‐Smith, Jill ; Dorkins, Huw ; Fryer, Alan ; Gener, Blanca ; Goudie, David ; Henderson, Alex ; Irving, Melita ; Joss, Shelagh ; Keeley, Vaughan ; Lahiri, Nayana ; Lynch, Sally Ann ; Mansour, Sahar ; McCann, Emma ; Morton, Jenny ; Motton, Nicole ; Murray, Alexandra ; Riches, Katie ; Shears, Deborah ; Stark, Zornitza ; Thompson, Elizabeth ; Vogt, Julie ; Wright, Michael ; Cole, Trevor ; Tatton‐Brown, Katrina

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.502-508

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
7
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review
Material Type:
Artigo 		Adicionar ao Meu Espaço

Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review

Pittaway, James F H ; Harrison, Christopher ; Rhee, Yumie ; Holder-Espinasse, Muriel ; Fryer, Alan E ; Cundy, Tim ; Drake, William M ; Irving, Melita D

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.104-104, Article 104 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
8
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Bengani, Hemant ; Handley, Mark ; Alvi, Mohsan ; Ibitoye, Rita ; Lees, Melissa ; Lynch, Sally Ann ; Lam, Wayne ; Fannemel, Madeleine ; Nordgren, Ann ; Malmgren, H. ; Kvarnung, M. ; Mehta, Sarju ; McKee, Shane ; Whiteford, Margo ; Stewart, Fiona ; Connell, Fiona ; Clayton-Smith, Jill ; Mansour, Sahar ; Mohammed, Shehla ; Fryer, Alan ; Morton, Jenny ; Grozeva, Detelina ; Asam, Tara ; Moore, David ; Sifrim, Alejandro ; McRae, Jeremy ; Hurles, Matthew E. ; Firth, Helen V. ; Raymond, F. Lucy ; Kini, Usha ; Nellåker, Christoffer ; FitzPatrick, David R.

Genetics in medicine, 2017-08, Vol.19 (8), p.900-908 [Periódico revisado por pares]

Nature Publishing Group

Sem texto completo

Citações Citado por
9
Mutations in the chromatin-associated protein ATRX
Mutations in the chromatin-associated protein ATRX
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the chromatin-associated protein ATRX

Gibbons, Richard J ; Wada, Takahito ; Fisher, Christopher A ; Malik, Nicola ; Mitson, Matthew J ; Steensma, David P ; Fryer, Alan ; Goudie, David R ; Krantz, Ian D ; Traeger-Synodinos, Joanne

Human mutation, 2008-06, Vol.29 (6), p.796-802 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por
10
Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

Pasternack, Sandra M. ; Refke, Melanie ; Paknia, Elham ; Hennies, Hans Christian ; Franz, Thomas ; Schäfer, Niklas ; Fryer, Alan ; van Steensel, Maurice ; Sweeney, Elizabeth ; Just, Miquel ; Grimm, Clemens ; Kruse, Roland ; Ferrándiz, Carlos ; Nöthen, Markus M. ; Fischer, Utz ; Betz, Regina C.

American journal of human genetics, 2013-01, Vol.92 (1), p.81-87 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (227)
  2. Resenhas  (13)
  3. Book Chapters  (10)
  4. Anais de Congresso  (9)
  5. Reports  (8)
  6. Dissertações  (4)
  7. Livros  (2)
  8. Outros  (1)
  9. magazinearticle  (1)
  10. Verbetes  (1)
  11. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de1979  (18)
  2. 1979Até1992  (24)
  3. 1993Até2002  (58)
  4. 2003Até2013  (89)
  5. Após 2013  (89)
  6. Mais opções open sub menu

Idioma 

  1. Inglês  (275)
  2. Japonês  (36)
  3. Italiano  (1)
  4. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Delfim Netto, A

Neste Assunto:

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

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

Buscando em bases de dados remotas. Favor aguardar.