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European Journal of Human Genetics : EJHG|February 26, 2015
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicismSara Amitrano, Annabella Marozza, Serena Somma, et al.
European Journal of Human Genetics : EJHG|March 5, 2015
Syndromic X-linked intellectual disability segregating with a missense variant in RLIMElin Tønne, Rita Holdhus, Christine Stansberg, et al.
European Journal of Human Genetics : EJHG|January 23, 2014
Fragile X syndrome due to a missense mutationLeila K Myrick, Mika Nakamoto-Kinoshita, Noralane M Lindor, et al.
European Journal of Human Genetics : EJHG|August 16, 2012
Quality in genetic counselling for presymptomatic testing--clinical guidelines for practice across the range of genetic conditionsHeather Skirton, Lesley Goldsmith, Leigh Jackson, et al.
European Journal of Human Genetics : EJHG|June 5, 2014
Genome-wide haplotypic testing in a Finnish cohort identifies a novel association with low-density lipoprotein cholesterolQian S Zhang, Brian L Browning, Sharon R Browning
European Journal of Human Genetics : EJHG|May 11, 2023
Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testingJane Tiller, Andrew Bakshi, Grace Dowling, et al.
European Journal of Human Genetics : EJHG|January 29, 2015
Interleukin-37 gene variants segregated anciently coexist during hominid evolutionBin Kang, Shimeng Cheng, Jinbiao Peng, et al.
European Journal of Human Genetics : EJHG|July 3, 2014
Pathway analysis with next-generation sequencing dataJinying Zhao, Yun Zhu, Eric Boerwinkle, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Next-generation sequencing in X-linked intellectual disabilityAndreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
European Journal of Human Genetics : EJHG|April 19, 2021
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataractJohanna L Jones, Mark A Corbett, Elise Yeaman, et al.
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