1. A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. Issue 8 (17th February 2018) Authors: Nakamura, Akie; Muroya, Koji; Ogata-Kawata, Hiroko; Nakabayashi, Kazuhiko; Matsubara, Keiko; Ogata, Tsutomu; Kurosawa, Kenji; Fukami, Maki; Kagami, Masayo Journal: Journal of medical genetics Issue: Volume 55:Issue 8(2018) Page Start: 567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R. Issue 7 (1st April 2022) Authors: Nakajima, Kimiko; Suzuki, Hisato; Yamamoto, Mayuko; Yamamoto, Tetsuya; Kawai, Tomoko; Nakabayashi, Kazuhiko; Hata, Kenichiro; Kosaki, Kenjiro; Nakajima, Hideki; Sano, Shigetoshi; Kubo, Akiharu Journal: Journal of dermatology Issue: Volume 49:Issue 7(2022) Page Start: 714 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia. (October 2022) Authors: Soejima, Hidenobu; Aoki, Saori; Higashimoto, Ken; Mishima, Hiroyuki; Yoshiura, Koh-ichiro; Nakabayashi, Kazuhiko; Hata, Kenichiro; Hara, Satoshi; Ohba, Takashi; Katabuchi, Hidetaka Journal: Placenta Issue: Volume 128(2022) Page Start: 123 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Acute promyelocytic leukemia with a cryptic insertion of RARA into TBL1XR1. Issue 11 (10th August 2019) Authors: Osumi, Tomoo; Watanabe, Akihiro; Okamura, Kohji; Nakabayashi, Kazuhiko; Yoshida, Masanori; Tsujimoto, Shin‐ichi; Uchiyama, Meri; Takahashi, Hiroyuki; Tomizawa, Daisuke; Hata, Kenichiro; Kiyokawa, Nobutaka; Kato, Motohiro Journal: Genes, chromosomes & cancer Issue: Volume 58:Issue 11(2019) Page Start: 820 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Amplicon Sequencing-Based Noninvasive Fetal Genotyping for RHD-Positive D Antigen-Negative Alleles. (1st October 2019) Authors: Takahashi, Ken; Migita, Ohsuke; Sasaki, Aiko; Nasu, Michiko; Kawashima, Akihiro; Sekizawa, Akihiko; Sato, Taisuke; Ito, Yuki; Sago, Haruhiko; Okamoto, Aikou; Nakabayashi, Kazuhiko; Hata, Kenichiro Journal: Clinical chemistry Issue: Volume 65:Number 10(2019) Page Start: 1307 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Aromatase excess syndrome in a family with upstream deletion of CYP19A1. (18th October 2013) Authors: Shihara, Daizou; Miyado, Mami; Nakabayashi, Kazuhiko; Shozu, Makio; Ogata, Tsutomu; Nagasaki, Keisuke; Fukami, Maki Journal: Clinical endocrinology Issue: Volume 81:Number 2(2014:Aug.) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. ATF7IP as a novel PDGFRB fusion partner in acute lymphoblastic leukaemia in children. (15th March 2014) Authors: Kobayashi, Kenichiro; Mitsui, Kazumasa; Ichikawa, Hitoshi; Nakabayashi, Kazuhiko; Matsuoka, Masaki; Kojima, Yasuko; Takahashi, Hiroyuki; Iijima, Kazutoshi; Ootsubo, Kaori; Oboki, Keisuke; Okita, Hajime; Yasuda, Kazuki; Sakamoto, Hiromi; Hata, Kenichiro; Yoshida, Teruhiko; Matsumoto, Kenji; Kiyoka... Journal: British journal of haematology Issue: Volume 165:Number 6(2014:Jun.) Page Start: 836 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3. Issue 11 (11th August 2020) Authors: Tahara, Umi; Ono, Noriko; Aoki, Satomi; Kawai, Tomoko; Nakabayashi, Kazuhiko; Hata, Kenichiro; Amagai, Masayuki; Kubo, Akiharu Journal: Journal of dermatology Issue: Volume 47:Issue 11(2020) Page Start: e393 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Case of pachydermoperiostosis with solute carrier organic anion transporter family, member 2A1 (SLCO2A1) mutations. Issue 9 (13th June 2015) Authors: Minakawa, Satoko; Kaneko, Takahide; Niizeki, Hironori; Mizukami, Hiroki; Saito, Yoko; Nigawara, Takeshi; Kurose, Rie; Nakabayashi, Kazuhiko; Kabashima, Kenji; Sawamura, Daisuke Journal: Journal of dermatology Issue: Volume 42:Issue 9(2015) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader‐Willi syndrome. (22nd March 2017) Authors: Okuno, Hironobu; Nakabayashi, Kazuhiko; Abe, Kousei; Ando, Takayuki; Sanosaka, Tsukasa; Kohyama, Jun; Akamatsu, Wado; Ohyama, Manabu; Takahashi, Takao; Kosaki, Kenjiro; Okano, Hideyuki Journal: Congenital anomalies Issue: Volume 57:Number 4(2017) Page Start: 96 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗