Results 91 to 100 of about 426,257 (254)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan   +5 more
wiley   +1 more source

Proposed Revisions for Biostatistics Graduate Program

open access: yes, 2008
This document contains the original and the subsequent responses to the proposal to revise the Biostatistics doctoral ...
Ohio State University. College of Public Health
core   +1 more source

Foundations of biostatistics

open access: yes, 2018
This book offers a comprehensive guide to essential techniques and methods in biostatistics, addressing the underlying concepts to aid in comprehension.
M. Ataharul Islam   +3 more
core   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang   +16 more
wiley   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas   +9 more
wiley   +1 more source

Traduction de Intuitive Biostatistics

open access: yes, 2002
Intuitive Biostatistics de Harvey Motulsky (New-York: Oxford University Press, 1995)info:eu-repo/semantics ...
Dramaix Wilmet, Michèle
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour   +5 more
wiley   +1 more source

New frontiers of biostatistics and bioinformatics

open access: yes, 2018
This book is comprised of presentations delivered at the 5th Workshop on Biostatistics and Bioinformatics held in Atlanta on May 5-7, 2017. Featuring twenty-two selected papers from the workshop, this book showcases the most current advances in the field,
Zhao, Yichuan, Chen, Ding-Geng
core   +1 more source

Environmental Exposures, Chronic Sinusitis, and Olfaction in People With Cystic Fibrosis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Environmental air pollutants may contribute to chronic rhinosinusitis (CRS), but their relationship with upper airway disease in people with cystic fibrosis (CF) remains poorly understood. This study evaluated associations between long‐term ambient air pollutant exposure and CRS severity and olfactory dysfunction in adults with CF ...
Benton Tullis   +31 more
wiley   +1 more source

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