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Journal of Human Genetics|August 17, 2018
Contribution of RAD51D germline mutations in breast and ovarian cancer in GreeceIrene Konstanta, Florentia Fostira, Paraskevi Apostolou, et al.
Journal of Human Genetics|March 13, 2010
Factor V Leiden mutation in Arabs in Kuwait by real-time PCR: different values for different ArabsAli A Dashti, Mehrez M Jadaon, Hend L Lewis
Journal of Human Genetics|June 9, 2017
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndromeSumito Dateki, Masayo Kagami, Keiko Matsubara, et al.
Journal of Human Genetics|April 26, 2018
An estimation of the prevalence of genomic disorders using chromosomal microarray dataMadelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, et al.
Journal of Human Genetics|May 23, 2018
Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patientsParaskevi Apostolou, Florentia Fostira, Vasiliki Mollaki, et al.
Journal of Human Genetics|April 5, 2018
Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation typeKaori Irahara-Miyana, Takanobu Otomo, Hidehito Kondo, et al.
Journal of Human Genetics|May 16, 2018
LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cellsYuichi Kawamura, Akiko Suga, Takuro Fujimaki, et al.
Journal of Human Genetics|May 19, 2018
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in KoreaDahye Kim, Jung Min Ko, Yoon-Myung Kim, et al.
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