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Refinado por: Nome da Publicação: American Journal of Human Genetics remover assunto: Molecular Sequence Data remover
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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
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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3
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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4
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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5
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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6
CARD15/NOD2 Mutational Analysis and Genotype-Phenotype Correlation in 612 Patients with Inflammatory Bowel Disease
CARD15/NOD2 Mutational Analysis and Genotype-Phenotype Correlation in 612 Patients with Inflammatory Bowel Disease
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CARD15/NOD2 Mutational Analysis and Genotype-Phenotype Correlation in 612 Patients with Inflammatory Bowel Disease

Lesage, Suzanne ; Zouali, Habib ; Cézard, Jean-Pierre ; Colombel, Jean-Frédéric ; Belaiche, Jacques ; Almer, Sven ; Tysk, Curt ; O'Morain, Colm ; Gassull, Miquel ; Binder, Vibeke ; Finkel, Yigael ; Modigliani, Robert ; Gower-Rousseau, Corinne ; Macry, Jeanne ; Merlin, Françoise ; Chamaillard, Mathias ; Jannot, Anne-Sophie ; Thomas, Gilles ; Hugot, Jean-Pierre

American journal of human genetics, 2002-04, Vol.70 (4), p.845-857 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Identification of a KCNE2 Gain-of-Function Mutation in Patients with Familial Atrial Fibrillation
Identification of a KCNE2 Gain-of-Function Mutation in Patients with Familial Atrial Fibrillation
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Identification of a KCNE2 Gain-of-Function Mutation in Patients with Familial Atrial Fibrillation

Yang, Yiqing ; Xia, Min ; Jin, Qingfeng ; Bendahhou, Saïd ; Shi, Jingyi ; Chen, Yiping ; Liang, Bo ; Lin, Jie ; Liu, Yi ; Liu, Ban ; Zhou, Qinshu ; Zhang, Dongwei ; Wang, Rong ; Ma, Ning ; Su, Xiaoyan ; Niu, Kaiya ; Pei, Yan ; Xu, Wenyuan ; Chen, Zhaopeng ; Wan, Haiying ; Cui, Jianmin ; Barhanin, Jacques ; Chen, Yihan

American journal of human genetics, 2004-11, Vol.75 (5), p.899-905 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes
MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes
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MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

Sirmaci, Asli ; Walsh, Tom ; Akay, Hatice ; Spiliopoulos, Michail ; Şakalar, Yıldırım Bayezit ; Hasanefendioğlu-Bayrak, Aylin ; Duman, Duygu ; Farooq, Amjad ; King, Mary-Claire ; Tekin, Mustafa

American journal of human genetics, 2010-11, Vol.87 (5), p.679-686 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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9
Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome
Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome
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Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome

Hoskins, Bethan E. ; Cramer, Carl H. ; Silvius, Derek ; Zou, Dan ; Raymond, Richard M. ; Orten, Dana J. ; Kimberling, William J. ; Smith, Richard J.H. ; Weil, Dominique ; Petit, Christine ; Otto, Edgar A. ; Xu, Pin-Xian ; Hildebrandt, Friedhelm

American journal of human genetics, 2007-04, Vol.80 (4), p.800-804 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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10
Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis
Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis
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Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

Huang, Ningwu ; Pandey, Amit V. ; Agrawal, Vishal ; Reardon, William ; Lapunzina, Pablo D. ; Mowat, David ; Jabs, Ethylin Wang ; Vliet, Guy Van ; Sack, Joseph ; Flück, Christa E. ; Miller, Walter L.

American journal of human genetics, 2005-05, Vol.76 (5), p.729-749 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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