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Journal of Human Genetics|January 30, 2019
A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiencySumito Dateki, Satoshi Watanabe, Hiroyuki Mishima, et al.
Neonatology|August 13, 2024
Diagnostic Utility of Preserved Dried Umbilical Cord Polymerase Chain Reaction in Intrauterine Herpes Simplex Virus Infection: A Case Report and Literature ReviewYasumasa Tsuda, Takeshi Matsushige, Hirofumi Inoue, et al.
Journal of Clinical Virology : the Official Publication of the Pan American Society for Clinical Virology|March 14, 2025
Three-year hearing outcomes in infants with congenital cytomegalovirus disease treated with oral valganciclovir: Interim results of a six-year follow-up study in JapanIchiro Morioka, Yasumasa Kakei, Takumi Imai, et al.
Journal of Human Genetics|December 17, 2004
Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosisTatsuro Kondoh, Osamu Shimokawa, Naoki Harada, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|October 21, 2005
Langerhans' cell histiocytosis after living donor liver transplantation: report of a caseRyoko Honda, Yasuharu Ohno, Takuya Iwasaki, et al.
Medicine|April 26, 2020
Efficacy and safety of valganciclovir in patients with symptomatic congenital cytomegalovirus disease: Study Protocol Clinical Trial (SPIRIT Compliant)Ichiro Morioka, Yasumasa Kakei, Takashi Omori, et al.
Frontiers in Microbiology|April 25, 2020
A Nationwide Antenatal Human T-Cell Leukemia Virus Type-1 Antibody Screening in JapanKazuo Itabashi, Tokuo Miyazawa, Akihiko Sekizawa, et al.
American Journal of Medical Genetics. Part A|March 3, 2004
Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case reportTatsuro Kondoh, Jiro Eguchi, Yoichiro Hamasaki, et al.
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.
BMJ Open|October 25, 2011
Screening for congenital cytomegalovirus infection using newborn urine samples collected on filter paper: feasibility and outcomes from a multicentre studyShin Koyano, Naoki Inoue, Akira Oka, et al.
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