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Clinical Genetics|November 1, 2020
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 geneKornelia Tripolszki, Erina Sasaki, Ronja Hotakainen, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|December 18, 2002
Exposure to pets and atopic dermatitis during the first two years of life. A cohort studyAngelika Zirngibl, Kaethe Franke, Ulrike Gehring, et al.
Clinical Nutrition (Edinburgh, Scotland)|December 6, 2016
nutritionDay: 10 years of growthKarin Schindler, Claude Pichard, Isabella Sulz, et al.
European Journal of Heart Failure|January 28, 2014
Improvement of cardiac function with device-based diaphragmatic stimulation in chronic heart failure patients: the randomized, open-label, crossover Epiphrenic II Pilot TrialRemo Beeler, Andreas W Schoenenberger, Peter Bauer, et al.
European Journal of Human Genetics : EJHG|April 1, 2010
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutationUlf Edener, Janine Wöllner, Ute Hehr, et al.
European Heart Journal|August 24, 2004
Suppression of paroxysmal atrial tachyarrhythmias--results of the SOPAT trialMonica Patten, Renke Maas, Peter Bauer, et al.
BMC Public Health|September 3, 2015
Changes in dietary intake during puberty and their determinants: results from the GINIplus birth cohort studyCarla Harris, Claudia Flexeder, Elisabeth Thiering, et al.
European Journal of Human Genetics : EJHG|August 4, 2011
Discrepancies in reporting the CAG repeat lengths for Huntington's diseaseOliver W Quarrell, Olivia Handley, Kirsty O'Donovan, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
Human Genetics|May 26, 2018
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesDaniel Fritzen, Alma Kuechler, Mona Grimmel, et al.
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