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Genetic disorders

Analyzing real-world adverse events of spironolactone with the FAERS database

Guowei Lin, Ru Chen, Chaoning Wen, Zhuopin Li, Xiangshan Yan, Lixian Li

published 17 Sep 2025

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CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders

Aditya Addepalli, Sakhare Kalyani, Minali Singh, Debashree Bandyopadhyay, K. Naga Mohan

published 29 Jan 2020

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A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions

Neng-Li Wang, Yu-Lan Lu, Ping Zhang, Mei-Hong Zhang, Jing-Yu Gong, Yi Lu, Xin-Bao Xie, Yi-Ling Qiu, Yan-Yan Yan, Bing-bing Wu, Jian-She Wang

published 05 Oct 2016

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The Use and Reporting of the Cross-Over Study Design in Clinical Trials and Systematic Reviews: A Systematic Assessment

Sarah Jane Nolan, Ian Hambleton, Kerry Dwan

published 13 Jul 2016

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Network Modeling of Crohn’s Disease Incidence

Jean-Marc Victor, Gaëlle Debret, Annick Lesne, Leigh Pascoe, Pascal Carrivain, Gilles Wainrib, Jean-Pierre Hugot

published 16 Jun 2016

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Empty Reviews: A Description and Consideration of Cochrane Systematic Reviews with No Included Studies

Joanne Yaffe, Paul Montgomery, Sally Hopewell, Lindsay Dianne Shepard

published 04 May 2012

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Tracking Subtle Stereotypes of Children with Trisomy 21: From Facial-Feature-Based to Implicit Stereotyping

Claire Enea-Drapeau, Michèle Carlier, Pascal Huguet

published 04 Apr 2012

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A Network of Genes, Genetic Disorders, and Brain Areas

Satoru Hayasaka, Christina E. Hugenschmidt, Paul J. Laurienti

published 10 Jun 2011

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Dissecting the Clinical Heterogeneity of Autism Spectrum Disorders through Defined Genotypes

Hilgo Bruining, Leo de Sonneville, Hanna Swaab, Maretha de Jonge, Martien Kas, Herman van Engeland, Jacob Vorstman

published 28 May 2010

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The Role of Inbreeding in the Extinction of a European Royal Dynasty

Gonzalo Alvarez, Francisco C. Ceballos, Celsa Quinteiro

published 15 Apr 2009

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