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1
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
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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

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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
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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

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3
A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes
A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes
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A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes

Chotai, K A ; Payne, S J

Journal of medical genetics, 1998-06, Vol.35 (6), p.472-475 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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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
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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

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5
Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B
Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B
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Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B

Gilbert, J R ; Speer, M C ; Stajich, J ; Clancy, R ; Lewis, K ; Qiu, H ; Yamaoka, L ; Kumar, A ; Vance, J ; Stewart, C ; Rozear, M ; Roses, A D ; Pericak-Vance, M A

Journal of medical genetics, 1995-10, Vol.32 (10), p.770-773 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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6
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
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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

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7
NAA10 polyadenylation signal variants cause syndromic microphthalmia
NAA10 polyadenylation signal variants cause syndromic microphthalmia
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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)

eScholarship, University of California

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8
NAA10 polyadenylation signal variants cause syndromic microphthalmia
NAA10 polyadenylation signal variants cause syndromic microphthalmia
Material Type:
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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

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9
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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

Journal of Medical Genetics v. 45, n. 11, p. 710-720, 2008

London 2008

Item não circula. Consulte sua biblioteca.(Acessar)

10
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

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

Journal of Medical Genetics v. 45, n. 11, p. 710-720, 2008

London 2008

Item não circula. Consulte sua biblioteca.(Acessar)

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

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

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