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European Journal of Human Genetics : EJHG|July 11, 2023
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 yearsPilar Guatibonza Moreno, Luba M Pardo, Catarina Pereira, et al.
European Journal of Human Genetics : EJHG|July 17, 2023
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18Tobias Bartolomaeus, Julia Hentschel, Rami Abou Jamra, et al.
European Journal of Human Genetics : EJHG|July 6, 2023
The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national projectMan Jin Kim, Boram Kim, Heerah Lee, et al.
European Journal of Human Genetics : EJHG|June 21, 2023
A survey of genetic and palliative care health professionals' views of integrating genetics into palliative careStephanie White, Erin Turbitt, Kris Rogers, et al.
European Journal of Human Genetics : EJHG|June 21, 2023
Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM)Lisa Marie Ballard, Rebecca Band, Anneke M Lucassen
European Journal of Human Genetics : EJHG|June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.
European Journal of Human Genetics : EJHG|July 28, 2026
Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case reportSean W Willemse, Koen C Demaegd, Wouter Koole, et al.
European Journal of Human Genetics : EJHG|July 14, 2026
Unveiling ocular developmental disorders through short-read whole-genome sequencing
European Journal of Human Genetics : EJHG|July 20, 2026
Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencingMohammed A M Derar, Jing Yu, Christopher M Watson, et al.
European Journal of Human Genetics : EJHG|July 23, 2026
Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ studyNathasha Kugenthiran, Erin Tutty, Anaita Kanga-Parabia, et al.
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