7 research outputs found

    Baker etal 2015 Heredity Dryad data

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    The Excel file contains 9 sheets, each providing the raw data for one of the 9 figures in the paper. For multiple-panel figures, data are given separately for each panel. For convenience, a small jpg image of each figure is also pasted into the sheet with its data

    Additional file 1: of Development, implementation and evaluation of an evidence-based program for introduction of new health technologies and clinical practices in a local healthcare setting

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    Harris C, Garrubba M and Allen K. Introduction of new health technologies and clinical practices: Toolkit for a transparent, accountable, evidence-based program for hospitals and health care organisations. 2014. Technology/Clinical Practice Program. Monash Health, Melbourne, Australia. (PDF 2131 kb

    Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

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    DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process) is shown. In some cases where the gene is inherited in an autosomal recessive manner, two variants are grouped together. Inheritance has been indicated where familial samples were available: negative indicates negative for variant and N/A sample not available. De novo events have only been noted where both parental samples were available and found to be negative for the change. Previously reported refers to a variant being described in either ClinVar, HGMD, or a publication in a peer-reviewed journal via a PubMed search. Variants were classified consistent with previous MPS publications of DSD cohorts [8, 10] which were based on ACMG guidelines [15]. VUS were called for three reasons: 1 = fits phenotype but predicted to be benign; 2 = damaging but doesn’t fit phenotype; or 3 = variant in the AR repetitive region. Patients marked with an asterisk were identified to have two or more diagnostic gene variants. Null variants (frameshifts, splice sites mutations, and premature stop codons) are shown in bold. Patients have been classified based on clinical notes provided, according to the recommended classification of DSD in the Chicago consensus report. Classifications: CGD complete gonadal dysgenesis, DASA disorders of androgen synthesis or action, DSD DSD of “unknown” origin; hypospadias, LCH Leydig cell hypoplasia, OT ovotesticular DSD, PGD partial gonadal dysgenesis, PMDS persistent Müllerian duct syndrome; syndromic, T testicular DSD. Related affected individuals are indicated. File is in Excel spreadsheet format. (XLSX 47 kb
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