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European Journal of Human Genetics : EJHG|December 30, 2010
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathyPaulien Smits, Ann Saada, Saskia B Wortmann, et al.
European Journal of Human Genetics : EJHG|October 21, 2010
Genome-wide association of breast cancer: composite likelihood with imputed genotypesIoannis Politopoulos, Jane Gibson, William Tapper, et al.
European Journal of Human Genetics : EJHG|October 21, 2010
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyeliaChristian P Schaaf, Robin P Goin-Kochel, Kerri P Nowell, et al.
European Journal of Human Genetics : EJHG|February 24, 2011
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine modelJessica L Mester, Amanda K Tilot, Lisa A Rybicki, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringZornitza Stark, Rebecca Storen, Bruce Bennetts, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18Ariana Kariminejad, Roxana Kariminejad, Azadeh Moshtagh, et al.
European Journal of Human Genetics : EJHG|April 21, 2011
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletionsDiana Mitter, Reinhard Ullmann, Artur Muradyan, et al.
European Journal of Human Genetics : EJHG|April 14, 2011
Gene set analysis of SNP data: benefits, challenges, and future directionsBrooke L Fridley, Joanna M Biernacka
European Journal of Human Genetics : EJHG|March 2, 2021
Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudesAnne-Marie Gerdes, Line Nicolaisen, Egil Husum, et al.
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