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American Journal of Medical Genetics. Part A|December 31, 2013
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotypeAlessandra Ferrarini, Muriel Gaillard, Frederic Guerry, et al.
Plos One|August 4, 2012
Mapping genetic variants associated with beta-adrenergic responses in inbred miceMicha Hersch, Bastian Peter, Hyun Min Kang, et al.
Bioinformatics (Oxford, England)|June 16, 2005
FoldIndex: a simple tool to predict whether a given protein sequence is intrinsically unfoldedJaime Prilusky, Clifford E Felder, Tzviya Zeev-Ben-Mordehai, et al.
Biochemistry|February 20, 2009
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3Christopher P Garnham, Rachel A Hanna, Jordan S Chou, et al.
Plos One|June 4, 2010
Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 miceAnne-Sophie de Preux Charles, Valérie Verdier, Jennifer Zenker, et al.
Journal of Muscle Research and Cell Motility|December 26, 2002
Six and Eya expression during human somitogenesis and MyoD gene family activationFrançoise Fougerousse, Muriel Durand, Soledad Lopez, et al.
American Journal of Human Genetics|March 4, 2014
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disordersSébastien Jacquemont, Bradley P Coe, Micha Hersch, et al.
Cancer Genetics and Cytogenetics|October 23, 2008
Automated four-color interphase fluorescence in situ hybridization approach for the simultaneous detection of specific aneuploidies of diagnostic and prognostic significance in high hyperdiploid acute lymphoblastic leukemiaAnna Talamo Blandin, Dominique Mühlematter, Sandrine Bougeon, et al.
BMC Genomics|June 19, 2012
Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohortArmand Valsesia, Brian J Stevenson, Dawn Waterworth, et al.
Familial Cancer|January 13, 2011
Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53Alessandra Ferrarini, Agnes Auteri-Kaczmarek, Alessia Pica, et al.
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