skip to main content
Idioma:
Primo Advanced Search
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search prefilters
Busca Simples
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: assunto: Adolescent remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability
De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability
Material Type:
Artigo 		Adicionar ao Meu Espaço

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

Gregor, Anne ; Oti, Martin ; Kouwenhoven, Evelyn N. ; Hoyer, Juliane ; Sticht, Heinrich ; Ekici, Arif B. ; Kjaergaard, Susanne ; Rauch, Anita ; Stunnenberg, Hendrik G. ; Uebe, Steffen ; Vasileiou, Georgia ; Reis, André ; Zhou, Huiqing ; Zweier, Christiane

American journal of human genetics, 2013-07, Vol.93 (1), p.124-131 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
2
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Hebebrand, Moritz ; Hüffmeier, Ulrike ; Trollmann, Regina ; Hehr, Ute ; Uebe, Steffen ; Ekici, Arif B ; Kraus, Cornelia ; Krumbiegel, Mandy ; Reis, André ; Thiel, Christian T ; Popp, Bernt

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.38-38, Article 38 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
3
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
Material Type:
Artigo 		Adicionar ao Meu Espaço

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Zweier, Christiane ; de Jong, Eiko K. ; Zweier, Markus ; Orrico, Alfredo ; Ousager, Lilian B. ; Collins, Amanda L. ; Bijlsma, Emilia K. ; Oortveld, Merel A.W. ; Ekici, Arif B. ; Reis, André ; Schenck, Annette ; Rauch, Anita

American journal of human genetics, 2009-11, Vol.85 (5), p.655-666 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
4
Bacterial Adhesion on Smooth and Rough Titanium Surfaces After Treatment With Different Instruments
Bacterial Adhesion on Smooth and Rough Titanium Surfaces After Treatment With Different Instruments
Material Type:
Artigo 		Adicionar ao Meu Espaço

Bacterial Adhesion on Smooth and Rough Titanium Surfaces After Treatment With Different Instruments

Duarte, Poliana Mendes ; Reis, André Figueiredo ; de Freitas, Patrícia Moreira ; Ota‐Tsuzuki, Claudia

Journal of periodontology (1970), 2009-11, Vol.80 (11), p.1824-1832 [Periódico revisado por pares]

Chicago, IL: American Academy of Periodontology

Texto completo disponível

Citações Citado por
5
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Zweier, Markus ; Gregor, Anne ; Zweier, Christiane ; Engels, Hartmut ; Sticht, Heinrich ; Wohlleber, Eva ; Bijlsma, Emilia K ; Holder, Susan E ; Zenker, Martin ; Rossier, Eva ; Grasshoff, Ute ; Johnson, Diana S ; Robertson, Lisa ; Firth, Helen V ; Ekici, Arif B ; Reis, André ; Rauch, Anita

Human mutation, 2010-06, Vol.31 (6), p.722-733 [Periódico revisado por pares]

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

Texto completo disponível

Citações Citado por
6
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Material Type:
Artigo 		Adicionar ao Meu Espaço

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Stankiewicz, Paweł ; Khan, Tahir N. ; Szafranski, Przemyslaw ; Slattery, Leah ; Streff, Haley ; Vetrini, Francesco ; Bernstein, Jonathan A. ; Brown, Chester W. ; Rosenfeld, Jill A. ; Rednam, Surya ; Scollon, Sarah ; Bergstrom, Katie L. ; Parsons, Donald W. ; Plon, Sharon E. ; Vieira, Marta W. ; Quaio, Caio R.D.C. ; Baratela, Wagner A.R. ; Acosta Guio, Johanna C. ; Armstrong, Ruth ; Mehta, Sarju G. ; Rump, Patrick ; Pfundt, Rolph ; Lewandowski, Raymond ; Fernandes, Erica M. ; Shinde, Deepali N. ; Tang, Sha ; Hoyer, Juliane ; Zweier, Christiane ; Reis, André ; Bacino, Carlos A. ; Xiao, Rui ; Breman, Amy M. ; Smith, Janice L. ; Katsanis, Nicholas ; Bostwick, Bret ; Popp, Bernt ; Davis, Erica E. ; Yang, Yaping

American journal of human genetics, 2017-10, Vol.101 (4), p.503-515 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
7
Prevalence and correlates of gout in a large cohort of patients with chronic kidney disease: the German Chronic Kidney Disease (GCKD) study
Prevalence and correlates of gout in a large cohort of patients with chronic kidney disease: the German Chronic Kidney Disease (GCKD) study
Material Type:
Artigo 		Adicionar ao Meu Espaço

Prevalence and correlates of gout in a large cohort of patients with chronic kidney disease: the German Chronic Kidney Disease (GCKD) study

Jing, Jiaojiao ; Kielstein, Jan T ; Schultheiss, Ulla T ; Sitter, Thomas ; Titze, Stephanie I ; Schaeffner, Elke S ; McAdams-DeMarco, Mara ; Kronenberg, Florian ; Eckardt, Kai-Uwe ; Köttgen, Anna

Nephrology, dialysis, transplantation, 2015-04, Vol.30 (4), p.613-621 [Periódico revisado por pares]

England

Texto completo disponível

Citações Citado por
8
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Material Type:
Artigo 		Adicionar ao Meu Espaço

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Mirzaa, Ghayda M. ; Chong, Jessica X. ; Piton, Amélie ; Popp, Bernt ; Foss, Kimberly ; Guo, Hui ; Harripaul, Ricardo ; Xia, Kun ; Scheck, Joshua ; Aldinger, Kimberly A. ; Sajan, Samin A. ; Tang, Sha ; Bonneau, Dominique ; Beck, Anita ; White, Janson ; Mahida, Sonal ; Harris, Jacqueline ; Smith-Hicks, Constance ; Hoyer, Juliane ; Zweier, Christiane ; Reis, André ; Thiel, Christian T. ; Jamra, Rami Abou ; Zeid, Natasha ; Yang, Amy ; Farach, Laura S. ; Walsh, Laurence ; Payne, Katelyn ; Rohena, Luis ; Velinov, Milen ; Ziegler, Alban ; Schaefer, Elise ; Gatinois, Vincent ; Geneviève, David ; Simon, Marleen E.H. ; Kohler, Jennefer ; Rotenberg, Joshua ; Wheeler, Patricia ; Larson, Austin ; Ernst, Michelle E. ; Akman, Cigdem I. ; Westman, Rachel ; Blanchet, Patricia ; Schillaci, Lori-Anne ; Vincent-Delorme, Catherine ; Gripp, Karen W. ; Mattioli, Francesca ; Guyader, Gwenaël Le ; Gerard, Bénédicte ; Mathieu-Dramard, Michèle ; Morin, Gilles ; Sasanfar, Roksana ; Ayub, Muhammad ; Vasli, Nasim ; Yang, Sandra ; Person, Rick ; Monaghan, Kristin G. ; Nickerson, Deborah A. ; van Binsbergen, Ellen ; Enns, Gregory M. ; Dries, Annika M. ; Rowe, Leah J. ; Tsai, Anne C.H. ; Svihovec, Shayna ; Friedman, Jennifer ; Agha, Zehra ; Qamar, Raheel ; Rodan, Lance H. ; Martinez-Agosto, Julian ; Ockeloen, Charlotte W. ; Vincent, Marie ; Sunderland, William James ; Bernstein, Jonathan A. ; Eichler, Evan E. ; Vincent, John B. ; Bamshad, Michael J.

Genetics in medicine, 2020-03, Vol.22 (3), p.538-546 [Periódico revisado por pares]

United States: Elsevier Inc

Sem texto completo

Citações Citado por
9
Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomy
Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomy

Schrauder, Michael G ; Brunel-Geuder, Lisa ; Häberle, Lothar ; Wunderle, Marius ; Hoyer, Juliane ; Csorba, Roland ; Reis, André ; Schulz-Wendtland, Rüdiger ; Beckmann, Matthias W ; Lux, Michael P

European journal of medical research, 2019-09, Vol.24 (1), p.32-32, Article 32 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
10
NDST1 missense mutations in autosomal recessive intellectual disability
NDST1 missense mutations in autosomal recessive intellectual disability
Material Type:
Artigo 		Adicionar ao Meu Espaço

NDST1 missense mutations in autosomal recessive intellectual disability

Reuter, Miriam S. ; Musante, Luciana ; Hu, Hao ; Diederich, Stefan ; Sticht, Heinrich ; Ekici, Arif B. ; Uebe, Steffen ; Wienker, Thomas F. ; Bartsch, Oliver ; Zechner, Ulrich ; Oppitz, Cornelia ; Keleman, Krystyna ; Jamra, Rami Abou ; Najmabadi, Hossein ; Schweiger, Susann ; Reis, André ; Kahrizi, Kimia

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2753-2763 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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 (83)
  2. Revistas revisadas por pares (82)

Data de Publicação 

De até
Refinar
  1. Antes de1999  (5)
  2. 1999Até2003  (13)
  3. 2004Até2008  (14)
  4. 2009Até2014  (28)
  5. Após 2014  (27)
  6. Mais opções open sub menu

Idioma 

  1. Inglês  (85)
  2. Japonês  (16)
  3. Português  (2)
  4. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.