skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: Nome da Publicação: Journal Of Medical Genetics remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
OPA1 increases the risk of normal but not high tension glaucoma
OPA1 increases the risk of normal but not high tension glaucoma
Material Type:
Artigo 		Adicionar ao Meu Espaço

OPA1 increases the risk of normal but not high tension glaucoma

Yu-Wai-Man, P ; Stewart, J D ; Hudson, G ; Andrews, R M ; Griffiths, P G ; Birch, M K ; Chinnery, P F

Journal of medical genetics, 2010-02, Vol.47 (2), p.120-125 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
2
A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students
A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students
Material Type:
Artigo 		Adicionar ao Meu Espaço

A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students

Barlow-Stewart, K ; Burnett, L ; Proos, A ; Howell, V ; Huq, F ; Lazarus, R ; Aizenberg, H

Journal of medical genetics, 2003-04, Vol.40 (4), p.e45-45 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
3
Cultural aspects of cancer genetics: setting a research agenda
Cultural aspects of cancer genetics: setting a research agenda
Material Type:
Artigo 		Adicionar ao Meu Espaço

Cultural aspects of cancer genetics: setting a research agenda

Meiser, Bettina ; Eisenbruch, Maurice ; Barlow-Stewart, Kristine ; Tucker, Katherine ; Steel, Zachary ; Goldstein, David

Journal of Medical Genetics, 2001-07, Vol.38 (7), p.425-429 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
4
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum
Material Type:
Artigo 		Adicionar ao Meu Espaço

Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum

Connacher, A A ; Forsyth, C C ; Stewart, W K

Journal of medical genetics, 1987-02, Vol.24 (2), p.116-118 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
5
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
Material Type:
Artigo 		Adicionar ao Meu Espaço

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Hannes, F D ; Sharp, A J ; Mefford, H C ; de Ravel, T ; Ruivenkamp, C A ; Breuning, M H ; Fryns, J-P ; Devriendt, K ; Van Buggenhout, G ; Vogels, A ; Stewart, H ; Hennekam, R C ; Cooper, G M ; Regan, R ; Knight, S J L ; Eichler, E E ; Vermeesch, J R

Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
6
NAA10 polyadenylation signal variants cause syndromic microphthalmia
NAA10 polyadenylation signal variants cause syndromic microphthalmia
Material Type:
Artigo 		Adicionar ao Meu Espaço

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Johnston, Jennifer J ; Williamson, Kathleen A ; Chou, Christopher M ; Sapp, Julie C ; Ansari, Morad ; Chapman, Heather M ; Cooper, David N ; Dabir, Tabib ; Dudley, Jeffrey N ; Holt, Richard J ; Ragge, Nicola K ; Schäffer, Alejandro A ; Sen, Shurjo K ; Slavotinek, Anne M ; FitzPatrick, David R ; Glaser, Thomas M ; Stewart, Fiona ; Black, Graeme CM ; Biesecker, Leslie G

Journal of medical genetics, 2019-07, Vol.56 (7), p.444-452 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

Texto completo disponível

Citações Citado por
7
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Ansari, Morad ; Poke, Gemma ; Ferry, Quentin ; Williamson, Kathleen ; Aldridge, Roland ; Meynert, Alison M ; Bengani, Hemant ; Chan, Cheng Yee ; Kayserili, Hülya ; Avci, Şahin ; Hennekam, Raoul C M ; Lampe, Anne K ; Redeker, Egbert ; Homfray, Tessa ; Ross, Alison ; Falkenberg Smeland, Marie ; Mansour, Sahar ; Parker, Michael J ; Cook, Jacqueline A ; Splitt, Miranda ; Fisher, Richard B ; Fryer, Alan ; Magee, Alex C ; Wilkie, Andrew ; Barnicoat, Angela ; Brady, Angela F ; Cooper, Nicola S ; Mercer, Catherine ; Deshpande, Charu ; Bennett, Christopher P ; Pilz, Daniela T ; Ruddy, Deborah ; Cilliers, Deirdre ; Johnson, Diana S ; Josifova, Dragana ; Rosser, Elisabeth ; Thompson, Elizabeth M ; Wakeling, Emma ; Kinning, Esther ; Stewart, Fiona ; Flinter, Frances ; Girisha, Katta M ; Cox, Helen ; Firth, Helen V ; Kingston, Helen ; Wee, Jamie S ; Hurst, Jane A ; Clayton-Smith, Jill ; Tolmie, John ; Vogt, Julie ; Tatton–Brown, Katrina ; Chandler, Kate ; Prescott, Katrina ; Wilson, Louise ; Behnam, Mahdiyeh ; McEntagart, Meriel ; Davidson, Rosemarie ; Lynch, Sally-Ann ; Sisodiya, Sanjay ; Mehta, Sarju G ; McKee, Shane A ; Mohammed, Shehla ; Holden, Simon ; Park, Soo-Mi ; Holder, Susan E ; Harrison, Victoria ; McConnell, Vivienne ; Lam, Wayne K ; Green, Andrew J ; Donnai, Dian ; Bitner-Glindzicz, Maria ; Donnelly, Deirdre E ; Nellåker, Christoffer ; Taylor, Martin S ; FitzPatrick, David R

Journal of medical genetics, 2014-10, Vol.51 (10), p.659-668 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

Texto completo disponível

Citações Citado por
8
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Koolen, D A ; Sharp, A J ; Hurst, J A ; Firth, H V ; Knight, S J L ; Goldenberg, A ; Saugier-Veber, P ; Pfundt, R ; Vissers, L E L M ; Destrée, A ; Grisart, B ; Rooms, L ; Van der Aa, N ; Field, M ; Hackett, A ; Bell, K ; Nowaczyk, M J M ; Mancini, G M S ; Poddighe, P J ; Schwartz, C E ; Rossi, E ; De Gregori, M ; Antonacci-Fulton, L L ; McLellan, M D ; Garrett, J M ; Wiechert, M A ; Miner, T L ; Crosby, S ; Ciccone, R ; Willatt, L ; Rauch, A ; Zenker, M ; Aradhya, S ; Manning, M A ; Strom, T M ; Wagenstaller, J ; Krepischi-Santos, A C ; Vianna-Morgante, A M ; Rosenberg, C ; Price, S M ; Stewart, H ; Shaw-Smith, C ; Brunner, H G ; Wilkie, A O M ; Veltman, J A ; Zuffardi, O ; Eichler, E E ; de Vries, B B A

Journal of medical genetics, 2008-11, Vol.45 (11), p.710-720 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
9
Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects
Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects
Material Type:
Artigo 		Adicionar ao Meu Espaço

Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects

Lill, Christina M ; Liu, Tian ; Schjeide, Brit-Maren M ; Roehr, Johannes T ; Akkad, Denis A ; Damotte, Vincent ; Alcina, Antonio ; Ortiz, Miguel A ; Arroyo, Rafa ; Lopez de Lapuente, Aitzkoa ; Blaschke, Paul ; Winkelmann, Alexander ; Gerdes, Lisa-Ann ; Luessi, Felix ; Fernadez, Oscar ; Izquierdo, Guillermo ; Antigüedad, Alfredo ; Hoffjan, Sabine ; Cournu-Rebeix, Isabelle ; Gromöller, Silvana ; Faber, Hans ; Liebsch, Maria ; Meissner, Esther ; Chanvillard, Coralie ; Touze, Emmanuel ; Pico, Fernando ; Corcia, Philippe ; Dörner, Thomas ; Steinhagen-Thiessen, Elisabeth ; Baeckman, Lars ; Heekeren, Hauke R ; Li, Shu-Chen ; Lindenberger, Ulman ; Chan, Andrew ; Hartung, Hans-Peter ; Aktas, Orhan ; Lohse, Peter ; Kümpfel, Tania ; Kubisch, Christian ; Epplen, Joerg T ; Zettl, Uwe K ; Fontaine, Bertrand ; Vandenbroeck, Koen ; Matesanz, Fuencisla ; Urcelay, Elena ; Bertram, Lars ; Zipp, Frauke

Journal of medical genetics, 2012-09, Vol.49 (9), p.558-562 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
10
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

van Bon, B.W.M ; Mefford, H.C ; Menten, B ; Koolen, D.A ; Sharp, A.J ; Nillesen, W.M ; Innis, J.W ; de Ravel de l'Argentière, Thomy ; Mercer, C.L ; Fichera, M ; Stewart, H ; Connell, L.E ; Ounap, K ; Lachlan, K ; Castle, B ; Van der Aa, N ; van Ravenswaaij, C ; Nobrega, M.A ; Serra-Juhé, C ; Simonic, I ; de Leeuw, N ; Pfundt, R ; Bongers, E.M ; Baker, C ; Finnemore, P ; Huang, S ; Maloney, V.K ; Crolla, J.A ; van Kalmthout, M ; Elia, M ; Vandeweyer, G ; Fryns, Jean-Pierre ; Janssens, S ; Foulds, N ; Reitano, S ; Smith, K ; Parkel, S ; Loeys, B ; Woods, C.G ; Oostra, A ; Speleman, F ; Pereira, A.C ; Kurg, A ; Willatt, L ; Knight, S.J.L ; Vermeesch, Joris ; Romano, C ; Barber, J.C ; Mortier, G ; Pérez-Jurado, L.A ; Kooy, F ; Brunner, H.G ; Eichler, E.E ; Kleefstra, T ; de Vries, B.B.A

Journal of Medical Genetics, 2009-08, Vol.46 (8), p.511-523 [Periódico revisado por pares]

BMJ Publishing Group

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.   

Mostrar Somente

  1. Recursos Online (533)
  2. Revistas revisadas por pares (533)

Data de Publicação 

De até
Refinar
  1. Antes de1974  (23)
  2. 1974Até1987  (26)
  3. 1988Até1998  (40)
  4. 1999Até2010  (219)
  5. Após 2010  (228)
  6. Mais opções open sub menu

Idioma 

  1. Japonês  (71)
  2. Catalão  (1)
  3. Russo  (1)
  4. Norueguês  (1)
  5. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Pfundt, R
  2. Garrett, J
  3. Zuffardi, O
  4. Eichler, E
  5. Van Der Aa, N

Neste Assunto:

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

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

Buscando em bases de dados remotas. Favor aguardar.