skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Refinado por: Nome da Publicação: American Journal Of Human Genetics remover assunto: Mutation remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Material Type:
Artigo 		Adicionar ao Meu Espaço

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Bredrup, Cecilie ; Saunier, Sophie ; Oud, Machteld M. ; Fiskerstrand, Torunn ; Hoischen, Alexander ; Brackman, Damien ; Leh, Sabine M. ; Midtbø, Marit ; Filhol, Emilie ; Bole-Feysot, Christine ; Nitschké, Patrick ; Gilissen, Christian ; Haugen, Olav H. ; Sanders, Jan-Stephan F. ; Stolte-Dijkstra, Irene ; Mans, Dorus A. ; Steenbergen, Eric J. ; Hamel, Ben C.J. ; Matignon, Marie ; Pfundt, Rolph ; Jeanpierre, Cécile ; Boman, Helge ; Rødahl, Eyvind ; Veltman, Joris A. ; Knappskog, Per M. ; Knoers, Nine V.A.M. ; Roepman, Ronald ; Arts, Heleen H.

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
2
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

Huigsloot, Merei ; Nijtmans, Leo G. ; Szklarczyk, Radek ; Baars, Marieke J.H. ; van den Brand, Mariël A.M. ; HendriksFranssen, Marthe G.M. ; van den Heuvel, Lambertus P. ; Smeitink, Jan A.M. ; Huynen, Martijn A. ; Rodenburg, Richard J.T.

American journal of human genetics, 2011-04, Vol.88 (4), p.488-493 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
3
Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia
Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

Dam, Anika H.D.M. ; Koscinski, Isabelle ; Kremer, Jan A.M. ; Moutou, Céline ; Jaeger, Anne-Sophie ; Oudakker, Astrid R. ; Tournaye, Herman ; Charlet, Nicolas ; Lagier-Tourenne, Clotilde ; van Bokhoven, Hans ; Viville, Stéphane

American journal of human genetics, 2007-10, Vol.81 (4), p.813-820 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
4
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

Manzini, M. Chiara ; Tambunan, Dimira E. ; Hill, R. Sean ; Yu, Tim W. ; Maynard, Thomas M. ; Heinzen, Erin L. ; Shianna, Kevin V. ; Stevens, Christine R. ; Partlow, Jennifer N. ; Barry, Brenda J. ; Rodriguez, Jacqueline ; Gupta, Vandana A. ; Al-Qudah, Abdel-Karim ; Eyaid, Wafaa M. ; Friedman, Jan M. ; Salih, Mustafa A. ; Clark, Robin ; Moroni, Isabella ; Mora, Marina ; Beggs, Alan H. ; Gabriel, Stacey B. ; Walsh, Christopher A.

American journal of human genetics, 2012-09, Vol.91 (3), p.541-547 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
5
VPS35 Mutations in Parkinson Disease
VPS35 Mutations in Parkinson Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

VPS35 Mutations in Parkinson Disease

Vilariño-Güell, Carles ; Wider, Christian ; Ross, Owen A. ; Dachsel, Justus C. ; Kachergus, Jennifer M. ; Lincoln, Sarah J. ; Soto-Ortolaza, Alexandra I. ; Cobb, Stephanie A. ; Wilhoite, Greggory J. ; Bacon, Justin A. ; Behrouz, Bahareh ; Melrose, Heather L. ; Hentati, Emna ; Puschmann, Andreas ; Evans, Daniel M. ; Conibear, Elizabeth ; Wasserman, Wyeth W. ; Aasly, Jan O. ; Burkhard, Pierre R. ; Djaldetti, Ruth ; Ghika, Joseph ; Hentati, Faycal ; Krygowska-Wajs, Anna ; Lynch, Tim ; Melamed, Eldad ; Rajput, Alex ; Rajput, Ali H. ; Solida, Alessandra ; Wu, Ruey-Meei ; Uitti, Ryan J. ; Wszolek, Zbigniew K. ; Vingerhoets, François ; Farrer, Matthew J.

American journal of human genetics, 2011-07, Vol.89 (1), p.162-167 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
6
Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Antonicka, Hana ; Østergaard, Elsebet ; Sasarman, Florin ; Weraarpachai, Woranontee ; Wibrand, Flemming ; Pedersen, Anne Marie B. ; Rodenburg, Richard J. ; van der Knaap, Marjo S. ; Smeitink, Jan A.M. ; Chrzanowska-Lightowlers, Zofia M. ; Shoubridge, Eric A.

American journal of human genetics, 2010-07, Vol.87 (1), p.115-122 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
7
Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
Material Type:
Artigo 		Adicionar ao Meu Espaço

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

Tucker, Tracy ; Marra, Marco ; Friedman, Jan M.

American journal of human genetics, 2009-08, Vol.85 (2), p.142-154 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
8
Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Saada, Ann ; Vogel, Rutger O. ; Hoefs, Saskia J. ; van den Brand, Mariël A. ; Wessels, Hans J. ; Willems, Peter H. ; Venselaar, Hanka ; Shaag, Avraham ; Barghuti, Flora ; Reish, Orit ; Shohat, Mordechai ; Huynen, Martijn A. ; Smeitink, Jan A.M. ; van den Heuvel, Lambert P. ; Nijtmans, Leo G.

American journal of human genetics, 2009-06, Vol.84 (6), p.718-727 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
9
Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

Gazda, Hanna T. ; Sheen, Mee Rie ; Vlachos, Adrianna ; Choesmel, Valerie ; O'Donohue, Marie-Françoise ; Schneider, Hal ; Darras, Natasha ; Hasman, Catherine ; Sieff, Colin A. ; Newburger, Peter E. ; Ball, Sarah E. ; Niewiadomska, Edyta ; Matysiak, Michal ; Zaucha, Jan M. ; Glader, Bertil ; Niemeyer, Charlotte ; Meerpohl, Joerg J. ; Atsidaftos, Eva ; Lipton, Jeffrey M. ; Gleizes, Pierre-Emmanuel ; Beggs, Alan H.

American journal of human genetics, 2008-12, Vol.83 (6), p.769-780 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
10
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Roelfsema, Jeroen H. ; White, Stefan J. ; Ariyürek, Yavuz ; Bartholdi, Deborah ; Niedrist, Dunja ; Papadia, Francesco ; Bacino, Carlos A. ; den Dunnen, Johan T. ; van Ommen, Gert-Jan B. ; Breuning, Martijn H. ; Hennekam, Raoul C. ; Peters, Dorien J.M.

American journal of human genetics, 2005-04, Vol.76 (4), p.572-580 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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.   

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

Buscando em bases de dados remotas. Favor aguardar.