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 next page
Mostrar Somente
Result Number Material Type Add to My Shelf Action Record Details and Options
1
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

White, Janson ; Mazzeu, Juliana F. ; Hoischen, Alexander ; Jhangiani, Shalini N. ; Gambin, Tomasz ; Alcino, Michele Calijorne ; Penney, Samantha ; Saraiva, Jorge M. ; Hove, Hanne ; Skovby, Flemming ; Kayserili, Hülya ; Estrella, Elicia ; Vulto-van Silfhout, Anneke T. ; Steehouwer, Marloes ; Muzny, Donna M. ; Sutton, V. Reid ; Gibbs, Richard A. ; Lupski, James R. ; Brunner, Han G. ; van Bon, Bregje W.M. ; Carvalho, Claudia M.B.

American journal of human genetics, 2015-04, Vol.96 (4), p.612-622 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
2
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

Wangler, Michael F ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M ; Jhangiani, Shalini ; Gibbs, Richard A ; Lupski, James R ; Beaudet, Arthur Barsh, Gregory S.

PLoS genetics, 2014-03, Vol.10 (3), p.e1004258-e1004258 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

Citações Citado por
3
De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
Material Type:
Artigo 		Adicionar ao Meu Espaço

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

Xia, Fan ; Bainbridge, Matthew N. ; Tan, Tiong Yang ; Wangler, Michael F. ; Scheuerle, Angela E. ; Zackai, Elaine H. ; Harr, Margaret H. ; Sutton, V. Reid ; Nalam, Roopa L. ; Zhu, Wenmiao ; Nash, Margot ; Ryan, Monique M. ; Yaplito-Lee, Joy ; Hunter, Jill V. ; Deardorff, Matthew A. ; Penney, Samantha J. ; Beaudet, Arthur L. ; Plon, Sharon E. ; Boerwinkle, Eric A. ; Lupski, James R. ; Eng, Christine M. ; Muzny, Donna M. ; Yang, Yaping ; Gibbs, Richard A.

American journal of human genetics, 2014-05, Vol.94 (5), p.784-789 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
4
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Gonzaga-Jauregui, Claudia ; Gamble, Candace N ; Yuan, Bo ; Penney, Samantha ; Jhangiani, Shalini ; Muzny, Donna M ; Gibbs, Richard A ; Lupski, James R ; Hecht, Jacqueline T

European journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.342-346 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
5
Secondary findings and carrier test frequencies in a large multiethnic sample
Secondary findings and carrier test frequencies in a large multiethnic sample
Material Type:
Artigo 		Adicionar ao Meu Espaço

Secondary findings and carrier test frequencies in a large multiethnic sample

Gambin, Tomasz ; Jhangiani, Shalini N ; Below, Jennifer E ; Campbell, Ian M ; Wiszniewski, Wojciech ; Muzny, Donna M ; Staples, Jeffrey ; Morrison, Alanna C ; Bainbridge, Matthew N ; Penney, Samantha ; McGuire, Amy L ; Gibbs, Richard A ; Lupski, James R ; Boerwinkle, Eric

Genome medicine, 2015-06, Vol.7 (1), p.54-54, Article 54 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
6
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
Material Type:
Artigo 		Adicionar ao Meu Espaço

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Eldomery, Mohammad K ; Akdemir, Zeynep C ; Vögtle, F-Nora ; Charng, Wu-Lin ; Mulica, Patrycja ; Rosenfeld, Jill A ; Gambin, Tomasz ; Gu, Shen ; Burrage, Lindsay C ; Al Shamsi, Aisha ; Penney, Samantha ; Jhangiani, Shalini N ; Zimmerman, Holly H ; Muzny, Donna M ; Wang, Xia ; Tang, Jia ; Medikonda, Ravi ; Ramachandran, Prasanna V ; Wong, Lee-Jun ; Boerwinkle, Eric ; Gibbs, Richard A ; Eng, Christine M ; Lalani, Seema R ; Hertecant, Jozef ; Rodenburg, Richard J ; Abdul-Rahman, Omar A ; Yang, Yaping ; Xia, Fan ; Wang, Meng C ; Lupski, James R ; Meisinger, Chris ; Sutton, V Reid

Genome medicine, 2016-11, Vol.8 (1), p.106-106, Article 106 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
7
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Prada, Carlos E ; Gonzaga-Jauregui, Claudia ; Tannenbaum, Rebecca ; Penney, Samantha ; Lupski, James R ; Hopkin, Robert J ; Sutton, V. Reid

European journal of medical genetics, 2014-07, Vol.57 (7), p.339-344 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

Texto completo disponível

Citações Citado por
8
A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
Material Type:
Artigo 		Adicionar ao Meu Espaço

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

Yamamoto, Shinya ; Jaiswal, Manish ; Charng, Wu-Lin ; Gambin, Tomasz ; Karaca, Ender ; Mirzaa, Ghayda ; Wiszniewski, Wojciech ; Sandoval, Hector ; Haelterman, Nele A. ; Xiong, Bo ; Zhang, Ke ; Bayat, Vafa ; David, Gabriela ; Li, Tongchao ; Chen, Kuchuan ; Gala, Upasana ; Harel, Tamar ; Pehlivan, Davut ; Penney, Samantha ; Vissers, Lisenka E.L.M. ; de Ligt, Joep ; Jhangiani, Shalini N. ; Xie, Yajing ; Tsang, Stephen H. ; Parman, Yesim ; Sivaci, Merve ; Battaloglu, Esra ; Muzny, Donna ; Wan, Ying-Wooi ; Liu, Zhandong ; Lin-Moore, Alexander T. ; Clark, Robin D. ; Curry, Cynthia J. ; Link, Nichole ; Schulze, Karen L. ; Boerwinkle, Eric ; Dobyns, William B. ; Allikmets, Rando ; Gibbs, Richard A. ; Chen, Rui ; Lupski, James R. ; Wangler, Michael F. ; Bellen, Hugo J.

Cell, 2014-09, Vol.159 (1), p.200-214 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
9
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
Material Type:
Artigo 		Adicionar ao Meu Espaço

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Watkin, Levi B ; Jessen, Birthe ; Wiszniewski, Wojciech ; Vece, Timothy J ; Jan, Max ; Sha, Youbao ; Thamsen, Maike ; Santos-Cortez, Regie L P ; Lee, Kwanghyuk ; Gambin, Tomasz ; Forbes, Lisa R ; Law, Christopher S ; Stray-Pedersen, Asbjørg ; Cheng, Mickie H ; Mace, Emily M ; Anderson, Mark S ; Liu, Dongfang ; Tang, Ling Fung ; Nicholas, Sarah K ; Nahmod, Karen ; Makedonas, George ; Canter, Debra L ; Kwok, Pui-Yan ; Hicks, John ; Jones, Kirk D ; Penney, Samantha ; Jhangiani, Shalini N ; Rosenblum, Michael D ; Dell, Sharon D ; Waterfield, Michael R ; Papa, Feroz R ; Muzny, Donna M ; Zaitlen, Noah ; Leal, Suzanne M ; Gonzaga-Jauregui, Claudia ; Boerwinkle, Eric ; Eissa, N Tony ; Gibbs, Richard A ; Lupski, James R ; Orange, Jordan S ; Shum, Anthony K

Nature genetics, 2015-06, Vol.47 (6), p.654-660 [Periódico revisado por pares]

United States: Nature Publishing Group

Texto completo disponível

Citações Citado por
10
The psychology, potential perils, and practice of leading healthy workplaces
The psychology, potential perils, and practice of leading healthy workplaces
Material Type:
Artigo 		Adicionar ao Meu Espaço

The psychology, potential perils, and practice of leading healthy workplaces

Day, Arla ; Penney, Samantha A. ; Hartling, Nikola

Organizational dynamics, 2019-07, Vol.48 (3), p.75-84 [Periódico revisado por pares]

Elsevier Inc

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Recursos Online (28)
  2. Revistas revisadas por pares (18)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (20)
  2. Conjunto de Dados  (6)
  3. Imagens  (4)
  4. Book Chapters  (2)
  5. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de2012  (1)
  2. 2012Até2012  (2)
  3. 2013Até2013  (2)
  4. 2014Até2015  (14)
  5. Após 2015  (14)
  6. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.