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Refinado por: Nome da Publicação: American journal of human genetics remover
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ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q(10) deficiency

Lagier-Tourenne, Clotilde; Tazir, Meriem; Lopez, Luis Carlos; Quinzii, Catarina M.; Assoum, Mirna; Drouot, Nathalie; Busso, Cleverson; Makri, Samira; Ali-Pacha, Lamia; Benhassine, Traki; Anheim, Mathieu; Lynch, David R.; Thibault, Christelle; Plewniak, Frederic; Bianchetti, Laurent; Tranchant, Christine; Poch, Olivier; Dimauro, Salvatore; Mandel, Jean-Louis; Barros, Mario H.; Hirano, Michio; Koenig, Michel Universidade De São Paulo

AMERICAN JOURNAL OF HUMAN GENETICS, v.82, n.3, p.661-672, 2008

CELL PRESS 2008

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Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

Bolze, Alexandre ; Byun, Minji ; Mcdonald, David ; Morgan, Neil V ; Abhyankar, Avinash ; Premkumar, Lakshmanane ; Puel, Anne ; Bacon, Chris M ; Rieux-Laucat, Frédéric ; Pang, Ki ; Britland, Alison ; Abel, Laurent ; Cant, Andrew ; Maher, Eamonn R ; Riedl, Stefan J ; Hambleton, Sophie ; Casanova, Jean-Laurent

The American Journal of Human Genetics, 2010, Vol.87(6), pp.873-881 [Periódico revisado por pares]

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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Thevenon, Julien ; Milh, Mathieu ; Feillet, François ; St-Onge, Judith ; Duffourd, Yannis ; Jugé, Clara ; Roubertie, Agathe ; Héron, Delphine ; Mignot, Cyril ; Raffo, Emmanuel ; Isidor, Bertrand ; Wahlen, Sandra ; Sanlaville, Damien ; Villeneuve, Nathalie ; Darmency-Stamboul, Véronique ; Toutain, Annick

The American Journal of Human Genetics, 03 July 2014, Vol.95(1), pp.113-120 [Periódico revisado por pares]

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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Gueneau, Lucie ; Fish, Richard J ; Shamseldin, Hanan E ; Voisin, Norine ; Tran Mau-Them, Frédéric ; Preiksaitiene, Egle ; Monroe, Glen R ; Lai, Angeline ; Putoux, Audrey ; Allias, Fabienne ; Ambusaidi, Qamariya ; Ambrozaityte, Laima ; Cimbalistienė, Loreta ; Delafontaine, Julien ; Guex, Nicolas ; Hashem, Mais ; Kurdi, Wesam

The American Journal of Human Genetics, 04 January 2018, Vol.102(1), pp.116-132 [Periódico revisado por pares]

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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

De Tomasi, Lara ; David, Pierre ; Humbert, Camille ; Silbermann, Flora ; Arrondel, Christelle ; Tores, Frédéric ; Fouquet, Stéphane ; Desgrange, Audrey ; Niel, Olivier ; Bole-Feysot, Christine ; Nitschké, Patrick ; Roume, Joëlle ; Cordier, Marie-Pierre ; Pietrement, Christine ; Isidor, Bertrand

The American Journal of Human Genetics, 02 November 2017, Vol.101(5), pp.803-814 [Periódico revisado por pares]

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Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

Gouya, Laurent ; Martin-Schmitt, Caroline ; Robreau, Anne-Marie ; Austerlitz, Frédéric ; Da Silva, Vasco ; Brun, Patrick ; Simonin, Sylvie ; Lyoumi, Saïd ; Grandchamp, Bernard ; Beaumont, Carole ; Puy, Hervé ; Deybach, Jean-Charles

The American Journal of Human Genetics, 2006, Vol.78(1), pp.2-14 [Periódico revisado por pares]

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Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm

Bourcier, Romain ; Le Scouarnec, Solena ; Bonnaud, Stéphanie ; Karakachoff, Matilde ; Bourcereau, Emmanuelle ; Heurtebise-Chrétien, Sandrine ; Menguy, Céline ; Dina, Christian ; Simonet, Floriane ; Moles, Alexis ; Lenoble, Cédric ; Lindenbaum, Pierre ; Chatel, Stéphanie ; Isidor, Bertrand ; Génin, Emmanuelle

The American Journal of Human Genetics, 04 January 2018, Vol.102(1), pp.133-141 [Periódico revisado por pares]

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, Sébastien ; Besnard, Thomas ; Ebstein, Frédéric ; Khan, Tahir N ; Gambin, Tomasz ; Douglas, Jessica ; Bacino, Carlos A ; Craigen, William J ; Sanders, Stephan J ; Lehmann, Andrea ; Latypova, Xénia ; Khan, Kamal ; Pacault, Mathilde ; Sacharow, Stephanie ; Glaser, Kimberly

The American Journal of Human Genetics, 06 April 2017, Vol.100(4), pp.689-689 [Periódico revisado por pares]

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, Sébastien ; Besnard, Thomas ; Ebstein, Frédéric ; Khan, Tahir N ; Gambin, Tomasz ; Douglas, Jessica ; Bacino, Carlos A ; Craigen, William J ; Sanders, Stephan J ; Lehmann, Andrea ; Latypova, Xénia ; Khan, Kamal ; Pacault, Mathilde ; Sacharow, Stephanie ; Glaser, Kimberly ; Bieth, Eric ; Perrin-Sabourin, Laurence ; Jacquemont, Marie-Line ; Cho, Megan T ; Roeder, Elizabeth ; Denommé-Pichon, Anne-Sophie ; Monaghan, Kristin G ; Yuan, Bo ; Xia, Fan ; Simon, Sylvain ; Bonneau, Dominique ; Parent, Philippe ; Gilbert-Dussardier, Brigitte ; Odent, Sylvie ; Toutain, Annick ; Pasquier, Laurent ; Barbouth, Deborah ; Shaw, Chad A ; Patel, Ankita ; Smith, Janice L ; Bi, Weimin ; Schmitt, Sébastien ; Deb, Wallid ; Nizon, Mathilde ; Mercier, Sandra ; Vincent, Marie ; Rooryck, Caroline ; Malan, Valérie ; Briceño, Ignacio ; Gómez, Alberto ; Nugent, Kimberly M ; Gibson, James B ; Cogné, Benjamin ; Lupski, James R ; Stessman, Holly A.F ; Eichler, Evan E ; Retterer, Kyle ; Yang, Yaping ; Redon, Richard ; Katsanis, Nicholas ; Rosenfeld, Jill A ; Kloetzel, Peter-Michael ; Golzio, Christelle ; Bézieau, Stéphane ; Stankiewicz, Paweł ; Isidor, Bertrand

The American Journal of Human Genetics, 02 February 2017, Vol.100(2), pp.352-363 [Periódico revisado por pares]

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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Olson, Heather E ; Jean-Marçais, Nolwenn ; Yang, Edward ; Heron, Delphine ; Tatton-Brown, Katrina ; van Der Zwaag, Paul A ; Bijlsma, Emilia K ; Krock, Bryan L ; Backer, E ; Kamsteeg, Erik-Jan ; Sinnema, Margje ; Reijnders, Margot R.F ; Bearden, David ; Begtrup, Amber ; Telegrafi, Aida ; Lunsing, Roelineke J ; Burglen, Lydie ; Lesca, Gaetan ; Cho, Megan T

The American Journal of Human Genetics, 03 May 2018, Vol.102(5), pp.995-1007 [Periódico revisado por pares]

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Deste Autor:

  1. Isidor, Bertrand
  2. Heron, Delphine
  3. Duffourd, Yannis
  4. Lesca, Gaetan
  5. Tatton-Brown, Katrina

Neste Assunto:

  1. Biology
  2. Humans
  3. Mutation
  4. Female
  5. Male

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