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European Journal of Human Genetics : EJHG|March 29, 2022
Grandmaternal smoking during pregnancy is associated with differential DNA methylation in peripheral blood of their grandchildrenSarah Holmes Watkins, Yasmin Iles-Caven, Marcus Pembrey, et al.
European Journal of Human Genetics : EJHG|April 1, 2022
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosisD Gareth Evans, Stefania Mostaccioli, David Pang, et al.
European Journal of Human Genetics : EJHG|April 1, 2022
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genesZain Awamleh, Eric Chater-Diehl, Sanaa Choufani, et al.
European Journal of Human Genetics : EJHG|April 1, 2022
Recommendations for reporting results of diagnostic genomic testingZandra C Deans, Joo Wook Ahn, Isabel M Carreira, et al.
European Journal of Human Genetics : EJHG|September 28, 2018
Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardationAdi Shohet, Lior Cohen, Danielle Haguel, et al.
European Journal of Human Genetics : EJHG|September 5, 2018
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing lossAnna Morgan, Dragana Vuckovic, Navaneethakrishnan Krishnamoorthy, et al.
European Journal of Human Genetics : EJHG|September 13, 2018
Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parentAdeline Bonnard, Ariane Herson, Marcela Gargiulo, et al.
European Journal of Human Genetics : EJHG|October 6, 2018
Newborn dried blood spot samples in Denmark: the hidden figures of secondary use and research participationFrancisca Nordfalk, Claus Thorn Ekstrøm
European Journal of Human Genetics : EJHG|October 6, 2018
Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parentsLea Godino, Daniela Turchetti, Leigh Jackson, et al.
European Journal of Human Genetics : EJHG|October 10, 2018
Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients' test uptakeSanne L van der Steen, Diewertje Houtman, Iris M Bakkeren, et al.
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