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32199 publications found in the database

*2011 (1784)

*Starting in 2010, coverage has been refocused on core journals.

2011 Publications

Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans
Feenstra, I. et al. American Journal of Human Genetics 89(6), 813-9, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families
Hebrard, M. et al. European Journal of Human Genetics 9(12), 1256-63, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Developmental origins and impact of BCR-ABL1 fusion and IKZF1 deletions in monozygotic twins with Ph(+) acute lymphoblastic leukemia
Cazzaniga, G. et al. Blood 118(20), 5559-64, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25
Tonoki, H. et al. American Journal of Medical Genetics Part a 155A(12), 2925-32, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription
Zangen, D. et al. American Journal of Human Genetics 89(4), 572-9, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria
Pierce, S. B. et al. Proceedings of the National Academy of Sciences of the United States of America 108(45), 18313-7, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Alteration of BIRC3 and multiple other NF-kappaB pathway genes in splenic marginal zone lymphoma
Rossi, D. et al. Blood 118(18), 4930-4, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients
Ouederni, M. et al. Blood 118(19), 5108-18, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion
Blaydon, D. C. et al. American Journal of Human Genetics 89(4), 564-71, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

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