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European Journal of Human Genetics : EJHG|September 26, 2003
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndromeA Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, et al.European Journal of Human Genetics : EJHG|September 26, 2003
Ancient mtDNA analysis and the origin of the GuanchesNicole Maca-Meyer, Matilde Arnay, Juan Carlos Rando, et al.European Journal of Human Genetics : EJHG|September 26, 2003
Recurrent triploidy of maternal originFrancesco Brancati, Rita Mingarelli, Bruno DallapiccolaEuropean Journal of Human Genetics : EJHG|September 27, 2003
Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian originSandra Martins, Teresa Matamá, Laura Guimarães, et al.European Journal of Human Genetics : EJHG|September 27, 2003
DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12Muhammad Wajid, Amir Ali Abbasi, Muhammad Ansar, et al.European Journal of Human Genetics : EJHG|December 20, 2003
Prevalence of lysosomal storage diseases in PortugalRui Pinto, Carla Caseiro, Manuela Lemos, et al.European Journal of Human Genetics : EJHG|April 11, 2013
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counselingCarole Corsini, Martin Gencik, Marjolaine Willems, et al.European Journal of Human Genetics : EJHG|April 11, 2013
Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patientsGiovanni Corso, Valeria Pascale, Giuseppe Flauti, et al.European Journal of Human Genetics : EJHG|March 15, 2013
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defectsCorry M R Weemaes, Maarten J D van Tol, Jun Wang, et al.European Journal of Human Genetics : EJHG|March 15, 2013
Genetics of eye colours in different rural populations on the Silk RoadSheila Ulivi, Massimo Mezzavilla, Paolo GaspariniPageof 563