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1
Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS
Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS
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Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

Chow, Clement Y. ; Landers, John E. ; Bergren, Sarah K. ; Sapp, Peter C. ; Grant, Adrienne E. ; Jones, Julie M. ; Everett, Lesley ; Lenk, Guy M. ; McKenna-Yasek, Diane M. ; Weisman, Lois S. ; Figlewicz, Denise ; Brown, Robert H. ; Meisler, Miriam H.

American journal of human genetics, 2009-01, Vol.84 (1), p.85-88 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Clinical and molecular aspects of 25 brazilian Friedreich's patients
Clinical and molecular aspects of 25 brazilian Friedreich's patients
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Clinical and molecular aspects of 25 brazilian Friedreich's patients

Lilian Maria José Albano Mayana Zatz; C. A Kim; D Bertola; Sofia Mizuho Miura Sugayama; Maria Joaquina Marques Dias; Fernando Kok; I Ferrareto; Sérgio Rosemberg; S Cocozza; Alcir José Monticelli; Annual Meeting of the American Society of Human Genetics (2000 Chicago)

American Journal of Human Genetics v. 67, n. 4, suppl. 2, p. 409, outubro 2000

Chicago 2000

Localização: FM - Fac. Medicina    (BCSEP 2000 81 )(Acessar)

3
Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
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Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

Lederer, Damien ; Grisart, Bernard ; Digilio, Maria Cristina ; Benoit, Valérie ; Crespin, Marianne ; Ghariani, Sophie Claire ; Maystadt, Isabelle ; Dallapiccola, Bruno ; Verellen-Dumoulin, Christine

American journal of human genetics, 2012-01, Vol.90 (1), p.119-124 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
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Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

Vrijenhoek, Terry ; Buizer-Voskamp, Jacobine E. ; van der Stelt, Inge ; Strengman, Eric ; Sabatti, Chiara ; Geurts van Kessel, Ad ; Brunner, Han G. ; Ophoff, Roel A. ; Veltman, Joris A.

American journal of human genetics, 2008-10, Vol.83 (4), p.504-510 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands
A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands
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A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

Tan, Min-Han ; Mester, Jessica ; Peterson, Charissa ; Yang, Yiran ; Chen, Jin-Lian ; Rybicki, Lisa A. ; Milas, Kresimira ; Pederson, Holly ; Remzi, Berna ; Orloff, Mohammed S. ; Eng, Charis

American journal of human genetics, 2011-01, Vol.88 (1), p.42-56 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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6
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
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TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Audo, Isabelle ; Kohl, Susanne ; Leroy, Bart P. ; Munier, Francis L. ; Guillonneau, Xavier ; Mohand-Saïd, Saddek ; Bujakowska, Kinga ; Nandrot, Emeline F. ; Lorenz, Birgit ; Preising, Markus ; Kellner, Ulrich ; Renner, Agnes B. ; Bernd, Antje ; Antonio, Aline ; Moskova-Doumanova, Veselina ; Lancelot, Marie-Elise ; Poloschek, Charlotte M. ; Drumare, Isabelle ; Defoort-Dhellemmes, Sabine ; Wissinger, Bernd ; Léveillard, Thierry ; Hamel, Christian P. ; Schorderet, Daniel F. ; De Baere, Elfride ; Berger, Wolfgang ; Jacobson, Samuel G. ; Zrenner, Eberhart ; Sahel, José-Alain ; Bhattacharya, Shomi S. ; Zeitz, Christina

American journal of human genetics, 2009-11, Vol.85 (5), p.720-729 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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7
Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation
Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation
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Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation

Wagenstaller, Janine ; Spranger, Stephanie ; Lorenz-Depiereux, Bettina ; Kazmierczak, Bernd ; Nathrath, Michaela ; Wahl, Dagmar ; Heye, Babett ; Gläser, Dieter ; Liebscher, Volkmar ; Meitinger, Thomas ; Strom, Tim M.

American journal of human genetics, 2007-10, Vol.81 (4), p.768-779 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
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Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

Gazda, Hanna T. ; Sheen, Mee Rie ; Vlachos, Adrianna ; Choesmel, Valerie ; O'Donohue, Marie-Françoise ; Schneider, Hal ; Darras, Natasha ; Hasman, Catherine ; Sieff, Colin A. ; Newburger, Peter E. ; Ball, Sarah E. ; Niewiadomska, Edyta ; Matysiak, Michal ; Zaucha, Jan M. ; Glader, Bertil ; Niemeyer, Charlotte ; Meerpohl, Joerg J. ; Atsidaftos, Eva ; Lipton, Jeffrey M. ; Gleizes, Pierre-Emmanuel ; Beggs, Alan H.

American journal of human genetics, 2008-12, Vol.83 (6), p.769-780 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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9
Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
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Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

Thiadens, Alberta A.H.J. ; den Hollander, Anneke I. ; Roosing, Susanne ; Nabuurs, Sander B. ; Zekveld-Vroon, Renate C. ; Collin, Rob W.J. ; De Baere, Elfride ; Koenekoop, Robert K. ; van Schooneveld, Mary J. ; Strom, Tim M. ; van Lith-Verhoeven, Janneke J.C. ; Lotery, Andrew J. ; van Moll-Ramirez, Norka ; Leroy, Bart P. ; van den Born, L. Ingeborgh ; Hoyng, Carel B. ; Cremers, Frans P.M. ; Klaver, Caroline C.W.

American journal of human genetics, 2009-08, Vol.85 (2), p.240-247 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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10
Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
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Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

Nikopoulos, Konstantinos ; Gilissen, Christian ; Hoischen, Alexander ; Erik van Nouhuys, C. ; Boonstra, F. Nienke ; Blokland, Ellen A.W. ; Arts, Peer ; Wieskamp, Nienke ; Strom, Tim M. ; Ayuso, Carmen ; Tilanus, Mauk A.D. ; Bouwhuis, Sanne ; Mukhopadhyay, Arijit ; Scheffer, Hans ; Hoefsloot, Lies H. ; Veltman, Joris A. ; Cremers, Frans P.M. ; Collin, Rob W.J.

American journal of human genetics, 2010-02, Vol.86 (2), p.240-247 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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