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Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
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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

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2
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
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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

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3
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
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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

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4
Frequency and Complexity of De Novo Structural Mutation in Autism
Frequency and Complexity of De Novo Structural Mutation in Autism
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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

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5
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
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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

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6
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
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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

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7
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Lessel, Davor ; Schob, Claudia ; Küry, Sébastien ; Reijnders, Margot R.F. ; Harel, Tamar ; Eldomery, Mohammad K. ; Coban-Akdemir, Zeynep ; Denecke, Jonas ; Edvardson, Shimon ; Colin, Estelle ; Stegmann, Alexander P.A. ; Gerkes, Erica H. ; Tessarech, Marine ; Bonneau, Dominique ; Barth, Magalie ; Besnard, Thomas ; Cogné, Benjamin ; Revah-Politi, Anya ; Strom, Tim M. ; Rosenfeld, Jill A. ; Yang, Yaping ; Posey, Jennifer E. ; Immken, LaDonna ; Oundjian, Nelly ; Helbig, Katherine L. ; Meeks, Naomi ; Zegar, Kelsey ; Morton, Jenny ; Schieving, Jolanda H. ; Claasen, Ana ; Huentelman, Matthew ; Narayanan, Vinodh ; Ramsey, Keri ; Brunner, Han G. ; Elpeleg, Orly ; Mercier, Sandra ; Bézieau, Stéphane ; Kubisch, Christian ; Kleefstra, Tjitske ; Kindler, Stefan ; Lupski, James R. ; Kreienkamp, Hans-Jürgen

American journal of human genetics, 2017-11, Vol.101 (5), p.716-724 [Periódico revisado por pares]

United States: Elsevier Inc

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