Kiyoko Sameshima

Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome

Yoko Narumi, Yoko Aoki, Tetsuya Niihori et al. · American Journal of Medical Genetics Part A · 2007 · 102 citations

Life Sciences, Genetics, Molecular Genetics +14

The spectrum of <i>ZEB2</i> mutations causing the Mowat–Wilson syndrome in Japanese populations

Yasukazu Yamada, Noriko Nomura, Kenichiro Yamada et al. · American Journal of Medical Genetics Part A · 2014 · 45 citations

Life Sciences, Genetics, Molecular Genetics +17

Liver disease is frequently observed in Down syndrome patients with transient abnormal myelopoiesis

Myoung-ja Park, Manabu Sotomatsu, Kentaro Ohki et al. · International Journal of Hematology · 2013 · 37 citations

Medicine, Hematology, Pathology +11

Update of the genotype and phenotype of<scp><i>KMT2D</i></scp>and<scp><i>KDM6A</i></scp>by genetic screening of 100 patients with clinically suspected Kabuki syndrome

Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto et al. · American Journal of Medical Genetics Part A · 2020 · 37 citations

Life Sciences, Genetics, Molecular Genetics +13

Clinical consequences in truncating mutations in exon 34 of <i>NOTCH2</i>: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome

Yoko Narumi, Byung‐Joo Min, Kenji Shimizu et al. · American Journal of Medical Genetics Part A · 2013 · 28 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +16