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1
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
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Artigo 		Adicionar ao Meu Espaço

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

Dorien Lugtenberg Luiz Zangrande-Vieira; Maria Kirchhoff; Annabel C Whibley; Astrid R Oudakker; Susanne Kjaergaard; Angela M Vianna-Morgante; Tjitske Kleefstra; Mariken Ruiter; Fernanda S Jehee; Reinhard Ullmann; Charles E Schwartz; Michael Stratton; F. Lucy Raymond; Joris A Veltman; Terry Vrijenhoek; Rolph Pfundt; Janneke H. M Schuurs-Hoeijmakers; Jayne y Hehir-Kwa; Guy Froyen; Jamel Chelly; Hans Hilger Ropers; Claude Moraine; Jozef Gècz; Jeroen Knijnenburg; Sarina G Kant; Ben C. J Hamel; Carla Resenberg; Hans van Bokhoven; Arjan P. M. de Brouwer

American Journal of Medical Genetics Part A Hoboken v. 152A n. 3, p. 638-645, mar. 2010

Hoboken 2010

Item não circula. Consulte sua biblioteca.(Acessar)

2
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

Dorien Lugtenberg Luiz Zangrande-Vieira; Maria Kirchhoff; Annabel C Whibley; Astrid R Oudakker; Susanne Kjaergaard; Angela Maria Vianna-Morgante; Tjitske Kleefstra; Mariken Ruiter; Fernanda S Jehee; Reinhard Ullmann; Charles E Schwartz; Michael Stratton; F. Lucy Raymond; Joris A Veltman; Terry Vrijenhoek; Rolph Pfundt; Janneke H. M Schuurs-Hoeijmakers; Jayne y Hehir-Kwa; Guy Froyen; Jamel Chelly; Hans Hilger Ropers; Claude Moraine; Jozef Gècz; Jeroen Knijnenburg; Sarina G Kant; Ben C. J Hamel; Carla Resenberg; Hans van Bokhoven; Arjan P. M. de Brouwer

American Journal of Medical Genetics Part A Hoboken v. 152A n. 3, p. 638-645, mar. 2010

Hoboken 2010

Item não circula. Consulte sua biblioteca.(Acessar)

3
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype
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CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype

Menke, Leonie A. ; van Belzen, Martine J. ; Alders, Marielle ; Cristofoli, Francesca ; Ehmke, Nadja ; Fergelot, Patricia ; Foster, Alison ; Gerkes, Erica H. ; Hoffer, Mariëtte J. V. ; Horn, Denise ; Kant, Sarina G. ; Lacombe, Didier ; Leon, Eyby ; Maas, Saskia M. ; Melis, Daniela ; Muto, Valentina ; Park, Soo-Mi ; Peeters, Hilde ; Peters, Dorien J. M. ; Pfundt, Rolph ; van Ravenswaaij-Arts, Conny M. A. ; Tartaglia, Marco ; Hennekam, Raoul C. M.

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2681-2693 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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4
PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases
PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases
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PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases

Bownass, Lucy ; Abbs, Stephen ; Armstrong, Ruth ; Baujat, Genevieve ; Behzadi, Gry ; Berentsen, Ragnhild Drage ; Burren, Christine ; Calder, Alistair ; Cormier‐Daire, Valérie ; Newbury‐Ecob, Ruth ; Foulds, Nicola ; Juliusson, Petur B. ; Kant, Sarina G. ; Lefroy, Henrietta ; Mehta, Sarju G. ; Merckoll, Else ; Michot, Caroline ; Monsell, Fergal ; Offiah, Amaka C. ; Richards, Allan ; Rosendahl, Karen ; Rustad, Cecilie F. ; Shears, Deborah ; Tveten, Kristian ; Wellesley, Diana ; Wordsworth, Paul ; Smithson, Sarah

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1884-1894 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation
Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation

Lugtenberg, Darien ; Zangrande-Vieira, Luiz ; Kirchhoff, Maria ; Whibley, Annabel C ; Oudakker, Astrid R ; Kjaergaard, Susanne ; Vianna-Morgante, Angela M ; Kleefstra, Tjitske ; Ruiter, Mariken ; Jehee, Fernanda S ; Ullmann, Reinhard ; Schwartz, Charles E ; Stratton, Michael ; Raymond, F. Lucy ; Veltman, Joris A ; Vrijenhoek, Terry ; Pfundt, Ralph ; Schuurs-Hoeijmakers, Janneke H.M ; Hehir-Kwa, Jayne Y ; Froyen, Guido ; Chelly, Jamel ; Ropers, Hans Hilger ; Moraine, Claude ; Gecz, Jozef ; Knijnenburg, Jeroen ; Kant, Sarina G ; Hamel, Ben C.J ; Rosenberg, Carla ; van Bokhoven, Hans ; de Brouwer, Arjan P.M

American Journal Of Medical Genetics Part A, 2010-03, Vol.152A (3), p.638-645 [Periódico revisado por pares]

Wiley-Liss

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Deste Autor:

  1. Pfundt, R
  2. Kjaergaard, S
  3. Kirchhoff, M
  4. Bokhoven, H
  5. Lugtenberg, D

Neste Assunto:

  1. Genetics & Heredity
  2. Genética
  3. Life Sciences & Biomedicine
  4. Retardo Mental
  5. Science & Technology

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

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