Results 121 to 130 of about 6,753,476 (214)

Additional file 4: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of SNV identification after polymorphism in the dbSNP and 1000 Genome Project were filtered. (DOCX 16Â kb)
Yang, Lin, Zixiu Li, Mei, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openaire   +1 more source

Additional file 1 of A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat

, 2021
Kathryn M. Meurs, Brian G. Williams, Dylan J. DeProspero, Steven G. Friedenberg, David E. Malarkey, J. Ashley Ezzell, Bruce W. Keene, Darcy B. Adin, Teresa C. DeFrancesco, Sandra Tou   +9 more
openalex   +1 more source

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies. [PDF]

, 2019
PurposeTo investigate the precision of visual fields (VFs) from semiautomated kinetic perimetry (SKP) on Octopus 900 perimeters, for children and adults with inherited retinal degenerations (IRDs).
Barnes, Claire S, Birch, David G, Bittner, Ava K, Dagnelie, Gislin, Koenekoop, Robert K, Schuchard, Ronald A, Wood, Leah   +6 more
core   +1 more source

Obesidad en la infancia y adolescencia [PDF]

, 2015
En la actualidad, la obesidad se considera un problema de salud pública mundial dado el aumento de su prevalencia, su continuidad en la edad adulta, los cambios en los estilos de vida de la población, la comorbilidad que se asocia y la baja ...
Güemes-Hidalgo, M., Muñoz-Calvo, M. T.
core   +1 more source

Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes [PDF]

, 2016
Norann A. Zaghloul, Sukanya Lodh, Timothy L. Hostelley   +2 more
core   +1 more source

Testing for Endothelial Dysfunction in Children with Rare Genetic Variants of Obesity

Endocrines
Background: Endothelial dysfunction (ED), an early indicator of atherosclerosis, is a well-established predictor of cardiovascular disease. This study investigates ED in children with rare genetic variants linked to obesity and explores the prevalence of
Ilham Farhat, Vivian L. Chin
doaj   +1 more source

Finding Rare, Disease-Associated Variants in Isolated Groups: Potential Advantages of Mennonite Populations [PDF]

, 2017
Large-scale genotyping and next-generation sequencing techniques have allowed great advances in the field of molecular genetics. Numerous common variants of low impact have been associated with many complex human traits and diseases, such as bipolar ...
Alves, Veronica M., Boldt, Angelica B. W., Hou, Liping, Kassem, Layla, Lopes, Fabiana L., McMahon, Francis J, Nardi, Antonio E.   +6 more
core   +1 more source

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. [PDF]

, 2011
Foini P, Izzi C, Maffei P, Marega A, Marshall J, Milan G, Scolari F., Tardanico R   +7 more
core   +1 more source

A Bayesian method for finding interactions in genomic studies [PDF]

, 2004
An important step in building a multiple regression model is the selection of predictors. In genomic and epidemiologic studies, datasets with a small sample size and a large number of predictors are common.
Chen, Wei, Ghosh, Debashis, Kardia, Sharon, Raghuanthan, Trivellore E.   +3 more
core   +1 more source

2024 SMFM Global Congress Abstracts

Pregnancy, Volume 1, Issue 2, March 2025.
wiley   +1 more source