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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover assunto: Mutation remover Humans remover
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Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
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Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

Pierce, Sarah B. ; Gersak, Ksenija ; Michaelson-Cohen, Rachel ; Walsh, Tom ; Lee, Ming K. ; Malach, Daniel ; Klevit, Rachel E. ; King, Mary-Claire ; Levy-Lahad, Ephrat

American journal of human genetics, 2013-04, Vol.92 (4), p.614-620 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Jenkinson, Emma M. ; Rehman, Atteeq U. ; Walsh, Tom ; Clayton-Smith, Jill ; Lee, Kwanghyuk ; Morell, Robert J. ; Drummond, Meghan C. ; Khan, Shaheen N. ; Naeem, Muhammad Asif ; Rauf, Bushra ; Billington, Neil ; Schultz, Julie M. ; Urquhart, Jill E. ; Lee, Ming K. ; Berry, Andrew ; Hanley, Neil A. ; Mehta, Sarju ; Cilliers, Deirdre ; Clayton, Peter E. ; Kingston, Helen ; Smith, Miriam J. ; Warner, Thomas T. ; Black, Graeme C. ; Trump, Dorothy ; Davis, Julian R.E. ; Ahmad, Wasim ; Leal, Suzanne M. ; Riazuddin, Sheikh ; King, Mary-Claire ; Friedman, Thomas B. ; Newman, William G.

American journal of human genetics, 2013-04, Vol.92 (4), p.605-613 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
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Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

Pierce, Sarah B. ; Walsh, Tom ; Chisholm, Karen M. ; Lee, Ming K. ; Thornton, Anne M. ; Fiumara, Agata ; Opitz, John M. ; Levy-Lahad, Ephrat ; Klevit, Rachel E. ; King, Mary-Claire

American journal of human genetics, 2010-08, Vol.87 (2), p.282-288 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness
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Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

Perrault, Isabelle ; Hamdan, Fadi F. ; Rio, Marlène ; Capo-Chichi, José-Mario ; Boddaert, Nathalie ; Décarie, Jean-Claude ; Maranda, Bruno ; Nabbout, Rima ; Sylvain, Michel ; Lortie, Anne ; Roux, Philippe P. ; Rossignol, Elsa ; Gérard, Xavier ; Barcia, Giulia ; Berquin, Patrick ; Munnich, Arnold ; Rouleau, Guy A. ; Kaplan, Josseline ; Rozet, Jean-Michel ; Michaud, Jacques L.

American journal of human genetics, 2014-06, Vol.94 (6), p.891-897 [Periódico revisado por pares]

United States: Elsevier Inc

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5
TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy
TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy
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TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

Hanein, Sylvain ; Perrault, Isabelle ; Roche, Olivier ; Gerber, Sylvie ; Khadom, Noman ; Rio, Marlene ; Boddaert, Nathalie ; Jean-Pierre, Marc ; Brahimi, Nora ; Serre, Valérie ; Chretien, Dominique ; Delphin, Nathalie ; Fares-Taie, Lucas ; Lachheb, Sahran ; Rotig, Agnès ; Meire, Françoise ; Munnich, Arnold ; Dufier, Jean-Louis ; Kaplan, Josseline ; Rozet, Jean-Michel

American journal of human genetics, 2009-04, Vol.84 (4), p.493-498 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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6
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Perrault, Isabelle ; Saunier, Sophie ; Hanein, Sylvain ; Filhol, Emilie ; Bizet, Albane A. ; Collins, Felicity ; Salih, Mustafa A.M. ; Gerber, Sylvie ; Delphin, Nathalie ; Bigot, Karine ; Orssaud, Christophe ; Silva, Eduardo ; Baudouin, Véronique ; Oud, Machteld M. ; Shannon, Nora ; Le Merrer, Martine ; Roche, Olivier ; Pietrement, Christine ; Goumid, Jamal ; Baumann, Clarisse ; Bole-Feysot, Christine ; Nitschke, Patrick ; Zahrate, Mohammed ; Beales, Philip ; Arts, Heleen H. ; Munnich, Arnold ; Kaplan, Josseline ; Antignac, Corinne ; Cormier-Daire, Valérie ; Rozet, Jean-Michel

American journal of human genetics, 2012-05, Vol.90 (5), p.864-870 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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7
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
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Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Taft, Ryan J. ; Vanderver, Adeline ; Leventer, Richard J. ; Damiani, Stephen A. ; Simons, Cas ; Grimmond, Sean M. ; Miller, David ; Schmidt, Johanna ; Lockhart, Paul J. ; Pope, Kate ; Ru, Kelin ; Crawford, Joanna ; Rosser, Tena ; de Coo, Irenaeus F.M. ; Juneja, Monica ; Verma, Ishwar C. ; Prabhakar, Prab ; Blaser, Susan ; Raiman, Julian ; Pouwels, Petra J.W. ; Bevova, Marianna R. ; Abbink, Truus E.M. ; van der Knaap, Marjo S. ; Wolf, Nicole I.

American journal of human genetics, 2013-05, Vol.92 (5), p.774-780 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
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Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Simons, Cas ; Griffin, Laurie B. ; Helman, Guy ; Golas, Gretchen ; Pizzino, Amy ; Bloom, Miriam ; Murphy, Jennifer L.P. ; Crawford, Joanna ; Evans, Sarah H. ; Topper, Scott ; Whitehead, Matthew T. ; Schreiber, John M. ; Chapman, Kimberly A. ; Tifft, Cyndi ; Lu, Katrina B. ; Gamper, Howard ; Shigematsu, Megumi ; Taft, Ryan J. ; Antonellis, Anthony ; Hou, Ya-Ming ; Vanderver, Adeline

American journal of human genetics, 2015-04, Vol.96 (4), p.675-681 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
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Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

Senum, Sarah R. ; Li, Ying (Sabrina) M. ; Benson, Katherine A. ; Joli, Giancarlo ; Olinger, Eric ; Lavu, Sravanthi ; Madsen, Charles D. ; Gregory, Adriana V. ; Neatu, Ruxandra ; Kline, Timothy L. ; Audrézet, Marie-Pierre ; Outeda, Patricia ; Nau, Cherie B. ; Meijer, Esther ; Ali, Hamad ; Steinman, Theodore I. ; Mrug, Michal ; Phelan, Paul J. ; Watnick, Terry J. ; Peters, Dorien J.M. ; Ong, Albert C.M. ; Conlon, Peter J. ; Perrone, Ronald D. ; Cornec-Le Gall, Emilie ; Hogan, Marie C. ; Torres, Vicente E. ; Sayer, John A. ; Harris, Peter C.

American journal of human genetics, 2022-01, Vol.109 (1), p.136-156 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
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Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

Schmidts, Miriam ; Vodopiutz, Julia ; Christou-Savina, Sonia ; Cortés, Claudio R. ; McInerney-Leo, Aideen M. ; Emes, Richard D. ; Arts, Heleen H. ; Tüysüz, Beyhan ; D’Silva, Jason ; Leo, Paul J. ; Giles, Tom C. ; Oud, Machteld M. ; Harris, Jessica A. ; Koopmans, Marije ; Marshall, Mhairi ; Elçioglu, Nursel ; Kuechler, Alma ; Bockenhauer, Detlef ; Moore, Anthony T. ; Wilson, Louise C. ; Janecke, Andreas R. ; Hurles, Matthew E. ; Emmet, Warren ; Gardiner, Brooke ; Streubel, Berthold ; Dopita, Belinda ; Zankl, Andreas ; Kayserili, Hülya ; Scambler, Peter J. ; Brown, Matthew A. ; Beales, Philip L. ; Wicking, Carol ; Duncan, Emma L. ; Mitchison, Hannah M.

American journal of human genetics, 2013-11, Vol.93 (5), p.932-944 [Periódico revisado por pares]

United States: Elsevier Inc

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