skip to main content
Idioma:
Resultados 1 2 3 next page
Refinado por: Nome da Publicação: American Journal of Human Genetics remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Manuela Wiessner Andreas Roos; Christopher J Munn; Ranjith Viswanathan; Tamieka Whyte; Dan Cox; Benedikt Schoser; Caroline Sewry; Helen Roper; Rahul Phadke; Chiara Marini Bettolo; Rita Barresi; Richard Charlton; Carsten G Bönnemann; Osório Abath Neto; Umbertina C Reed; Edmar Zanoteli; Cristiane Araújo Martins Moreno; Birgit Ertl-Wagner; Rolf Stucka; Christian De Goede; Tamiris Borges da Silva; Denisa Hathazi; Margherita Dell’Aica; René P Zahedi; Simone Thiele; Juliane Müller; Helen Kingston; Susanna Müller; Elizabeth Curtis; Maggie C Walter; Tim M Strom; Volker Straub; Kate Bushby; Francesco Muntoni; Laura E Swan; Hanns Lochmüller; Jan Senderek

American Journal of Human Genetics Chicago v. 100, n. 3, p. 523-536, 2017

Chicago 2017

Localização: FM - Fac. Medicina    (BCSEP 091 2017 )(Acessar)

2
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Mayr, Johannes A. ; Haack, Tobias B. ; Graf, Elisabeth ; Zimmermann, Franz A. ; Wieland, Thomas ; Haberberger, Birgit ; Superti-Furga, Andrea ; Kirschner, Janbernd ; Steinmann, Beat ; Baumgartner, Matthias R. ; Moroni, Isabella ; Lamantea, Eleonora ; Zeviani, Massimo ; Rodenburg, Richard J. ; Smeitink, Jan ; Strom, Tim M. ; Meitinger, Thomas ; Sperl, Wolfgang ; Prokisch, Holger

American journal of human genetics, 2012-02, Vol.90 (2), p.314-320 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
3
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Oates, Emily C. ; Rossor, Alexander M. ; Hafezparast, Majid ; Gonzalez, Michael ; Speziani, Fiorella ; MacArthur, Daniel G. ; Lek, Monkol ; Cottenie, Ellen ; Scoto, Mariacristina ; Foley, A. Reghan ; Hurles, Matthew ; Houlden, Henry ; Greensmith, Linda ; Auer-Grumbach, Michaela ; Pieber, Thomas R. ; Strom, Tim M. ; Schule, Rebecca ; Herrmann, David N. ; Sowden, Janet E. ; Acsadi, Gyula ; Menezes, Manoj P. ; Clarke, Nigel F. ; Züchner, Stephan ; Muntoni, Francesco ; North, Kathryn N. ; Reilly, Mary M.

American journal of human genetics, 2013-06, Vol.92 (6), p.965-973 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
4
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Haack, Tobias B. ; Ignatius, Erika ; Calvo-Garrido, Javier ; Iuso, Arcangela ; Isohanni, Pirjo ; Maffezzini, Camilla ; Lönnqvist, Tuula ; Suomalainen, Anu ; Gorza, Matteo ; Kremer, Laura S. ; Graf, Elisabeth ; Hartig, Monika ; Berutti, Riccardo ; Paucar, Martin ; Svenningsson, Per ; Stranneheim, Henrik ; Brandberg, Göran ; Wedell, Anna ; Kurian, Manju A. ; Hayflick, Susan A. ; Venco, Paola ; Tiranti, Valeria ; Strom, Tim M. ; Dichgans, Martin ; Horvath, Rita ; Holinski-Feder, Elke ; Freyer, Christoph ; Meitinger, Thomas ; Prokisch, Holger ; Senderek, Jan ; Wredenberg, Anna ; Carroll, Christopher J. ; Klopstock, Thomas

American journal of human genetics, 2016-09, Vol.99 (3), p.735-743 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
5
Frequency and Complexity of De Novo Structural Mutation in Autism
Frequency and Complexity of De Novo Structural Mutation in Autism
Material Type:
Artigo 		Adicionar ao Meu Espaço

Frequency and Complexity of De Novo Structural Mutation in Autism

Brandler, William M. ; Antaki, Danny ; Gujral, Madhusudan ; Noor, Amina ; Rosanio, Gabriel ; Chapman, Timothy R. ; Barrera, Daniel J. ; Lin, Guan Ning ; Malhotra, Dheeraj ; Watts, Amanda C. ; Wong, Lawrence C. ; Estabillo, Jasper A. ; Gadomski, Therese E. ; Hong, Oanh ; Fajardo, Karin V. Fuentes ; Bhandari, Abhishek ; Owen, Renius ; Baughn, Michael ; Yuan, Jeffrey ; Solomon, Terry ; Moyzis, Alexandra G. ; Maile, Michelle S. ; Sanders, Stephan J. ; Reiner, Gail E. ; Vaux, Keith K. ; Strom, Charles M. ; Zhang, Kang ; Muotri, Alysson R. ; Akshoomoff, Natacha ; Leal, Suzanne M. ; Pierce, Karen ; Courchesne, Eric ; Iakoucheva, Lilia M. ; Corsello, Christina ; Sebat, Jonathan

American journal of human genetics, 2016-04, Vol.98 (4), p.667-679 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
6
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Kopajtich, Robert ; Murayama, Kei ; Janecke, Andreas R. ; Haack, Tobias B. ; Breuer, Maximilian ; Knisely, A.S. ; Harting, Inga ; Ohashi, Toya ; Okazaki, Yasushi ; Watanabe, Daisaku ; Tokuzawa, Yoshimi ; Kotzaeridou, Urania ; Kölker, Stefan ; Sauer, Sven ; Carl, Matthias ; Straub, Simon ; Entenmann, Andreas ; Gizewski, Elke ; Feichtinger, René G. ; Mayr, Johannes A. ; Lackner, Karoline ; Strom, Tim M. ; Meitinger, Thomas ; Müller, Thomas ; Ohtake, Akira ; Hoffmann, Georg F. ; Prokisch, Holger ; Staufner, Christian

American journal of human genetics, 2016-08, Vol.99 (2), p.414-422 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
7
Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

den Hollander, Anneke I. ; Koenekoop, Robert K. ; Yzer, Suzanne ; Lopez, Irma ; Arends, Maarten L. ; Voesenek, Krysta E.J. ; Zonneveld, Marijke N. ; Strom, Tim M. ; Meitinger, Thomas ; Brunner, Han G. ; Hoyng, Carel B. ; van den Born, L. Ingeborgh ; Rohrschneider, Klaus ; Cremers, Frans P.M.

American journal of human genetics, 2006-09, Vol.79 (3), p.556-561 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
8
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
Material Type:
Artigo 		Adicionar ao Meu Espaço

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Powell, Christopher A. ; Kopajtich, Robert ; D’Souza, Aaron R. ; Rorbach, Joanna ; Kremer, Laura S. ; Husain, Ralf A. ; Dallabona, Cristina ; Donnini, Claudia ; Alston, Charlotte L. ; Griffin, Helen ; Pyle, Angela ; Chinnery, Patrick F. ; Strom, Tim M. ; Meitinger, Thomas ; Rodenburg, Richard J. ; Schottmann, Gudrun ; Schuelke, Markus ; Romain, Nadine ; Haller, Ronald G. ; Ferrero, Ileana ; Haack, Tobias B. ; Taylor, Robert W. ; Prokisch, Holger ; Minczuk, Michal

American journal of human genetics, 2015-08, Vol.97 (2), p.319-328 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
9
Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3
Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3
Material Type:
Artigo 		Adicionar ao Meu Espaço

Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3

Lorenz-Depiereux, Bettina ; Benet-Pages, Anna ; Eckstein, Gertrud ; Tenenbaum-Rakover, Yardena ; Wagenstaller, Janine ; Tiosano, Dov ; Gershoni-Baruch, Ruth ; Albers, Norbert ; Lichtner, Peter ; Schnabel, Dirk ; Hochberg, Ze'ev ; Strom, Tim M.

American journal of human genetics, 2006-02, Vol.78 (2), p.193-201 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
10
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
Material Type:
Artigo 		Adicionar ao Meu Espaço

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

Guelly, Christian ; Zhu, Peng-Peng ; Leonardis, Lea ; Papić, Lea ; Zidar, Janez ; Schabhüttl, Maria ; Strohmaier, Heimo ; Weis, Joachim ; Strom, Tim M. ; Baets, Jonathan ; Willems, Jan ; De Jonghe, Peter ; Reilly, Mary M. ; Fröhlich, Eleonore ; Hatz, Martina ; Trajanoski, Slave ; Pieber, Thomas R. ; Janecke, Andreas R. ; Blackstone, Craig ; Auer-Grumbach, Michaela

American journal of human genetics, 2011-01, Vol.88 (1), p.99-105 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
Resultados 1 2 3 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Data de Publicação 

De até
Refinar
  1. Antes de1998  (3)
  2. 1998Até2009  (4)
  3. 2010Até2012  (5)
  4. 2013Até2016  (10)
  5. Após 2016  (6)
  6. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Lochmüller, H
  2. Zanoteli, E
  3. Kingston, H
  4. Munn, C
  5. Ertl-Wagner, B

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Female

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

Buscando em bases de dados remotas. Favor aguardar.