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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover assunto: Humans remover
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1
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
Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis
Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis
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Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis

Perrault, Isabelle ; Hanein, Sylvain ; Gerber, Sylvie ; Barbet, Fabienne ; Ducroq, Dominique ; Dollfus, Helene ; Hamel, Christian ; Dufier, Jean-Louis ; Munnich, Arnold ; Kaplan, Josseline ; Rozet, Jean-Michel

American journal of human genetics, 2004-10, Vol.75 (4), p.639-646 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis
Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis
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Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis

Perrault, Isabelle ; Rozet, Jean-Michel ; Ghazi, Imad ; Leowski, Corinne ; Bonnemaison, Michèle ; Gerber, Sylvie ; Ducroq, Dominique ; Cabot, Annick ; Souied, Eric ; Dufier, Jean-Louis ; Munnich, Arnold ; Kaplan, Josseline

American journal of human genetics, 1999-04, Vol.64 (4), p.1225-1228 [Periódico revisado por pares]

United States: Elsevier Inc

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6
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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7
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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8
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

Mechaussier, Sabrina ; Almoallem, Basamat ; Zeitz, Christina ; Van Schil, Kristof ; Jeddawi, Laila ; Van Dorpe, Jo ; Dueñas Rey, Alfredo ; Condroyer, Christel ; Pelle, Olivier ; Polak, Michel ; Boddaert, Nathalie ; Bahi-Buisson, Nadia ; Cavallin, Mara ; Bacquet, Jean-Louis ; Mouallem-Bézière, Alexandra ; Zambrowski, Olivia ; Sahel, José Alain ; Audo, Isabelle ; Kaplan, Josseline ; Rozet, Jean-Michel ; De Baere, Elfride ; Perrault, Isabelle

American journal of human genetics, 2020-06, Vol.106 (6), p.859-871 [Periódico revisado por pares]

United States: Elsevier Inc

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9
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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10
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease
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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease

Luscan, Romain ; Mechaussier, Sabrina ; Paul, Antoine ; Tian, Guoling ; Gérard, Xavier ; Defoort-Dellhemmes, Sabine ; Loundon, Natalie ; Audo, Isabelle ; Bonnin, Sophie ; LeGargasson, Jean-François ; Dumont, Julien ; Goudin, Nicolas ; Garfa-Traoré, Meriem ; Bras, Marc ; Pouliet, Aurore ; Bessières, Bettina ; Boddaert, Nathalie ; Sahel, José-Alain ; Lyonnet, Stanislas ; Kaplan, Josseline ; Cowan, Nicholas J. ; Rozet, Jean-Michel ; Marlin, Sandrine ; Perrault, Isabelle

American journal of human genetics, 2017-12, Vol.101 (6), p.1006-1012 [Periódico revisado por pares]

United States: Elsevier Inc

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