11. Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome. (26th January 2023) Authors: Nakato, Daisuke; Yamada, Mamiko; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro Journal: Congenital anomalies Issue: Volume 63:Number 2(2023) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder. Issue 5 (22nd February 2021) Authors: Yamada, Mamiko; Kubota, Kazumi; Uchida, Atsuro; Yagihashi, Tatsuhiko; Kawasaki, Masahito; Suzuki, Hisato; Uehara, Tomoko; Takenouchi, Toshiki; Kurosaka, Hiroshi; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1544 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross‐sectional study. Issue 5 (9th March 2022) Authors: Abe, Kodai; Kitago, Minoru; Kosaki, Kenjiro; Yamada, Mamiko; Iwasaki, Eisuke; Kawasaki, Shintaro; Mizukami, Keijiro; Momozawa, Yukihide; Terao, Chikashi; Yagi, Hiroshi; Abe, Yuta; Hasegawa, Yasushi; Hori, Shutaro; Tanaka, Masayuki; Nakano, Yutaka; Kitagawa, Yuko Journal: Cancer science Issue: Volume 113:Issue 5(2022) Page Start: 1821 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Heterozygous nonsense variant of CHD8 in a patient with forme‐fruste Marfan syndrome and intellectual disability. (1st October 2020) Authors: Yamada, Mamiko; Yamaguchi, Yu; Uehara, Tomoko; Yagihashi, Tatsuhiko; Kosaki, Kenjiro Journal: Congenital anomalies Issue: Volume 61:Number 1(2021) Page Start: 30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. IFT172 as the 19th gene causative of oral‐facial‐digital syndrome. Issue 12 (6th October 2019) Authors: Yamada, Mamiko; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Fukushima, Hiroyuki; Morisada, Naoya; Tominaga, Kenta; Onoda, Motohiro; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 179:Issue 12(2019) Page Start: 2510 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting JMJD1C variant that led to 21 bp deletion of the transcript. Issue 12 (30th September 2020) Authors: Yamada, Mamiko; Sokoda, Tatsuyuki; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Yagihashi, Tatsuhiko; Maruo, Yoshihiro; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 3064 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Multiple introductions of SARS-CoV-2 B.1.1.214 lineages from mainland Japan preceded the third wave of the COVID-19 epidemic in Hokkaido. Issue 44 (November 2021) Authors: Shimura, Takako; Abe, Kodai; Takenouchi, Toshiki; Yamada, Mamiko; Suzuki, Hisato; Suematsu, Makoto; Nakakubo, Sho; Kamada, Keisuke; Konno, Satoshi; Teshima, Takanori; Kosaki, Kenjiro Journal: Travel medicine and infectious disease Issue: Issue 44(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant. (11th July 2021) Authors: Yamada, Mamiko; Funato, Michinori; Kondo, Goro; Suzuki, Hisato; Uehara, Tomoko; Takenouchi, Toshiki; Sakamoto, Yoshiaki; Kosaki, Kenjiro Journal: Congenital anomalies Issue: Volume 61:Number 6(2021) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients. Issue 11 (11th August 2020) Authors: Suzuki, Hisato; Yamada, Mamiko; Uehara, Tomoko; Takenouchi, Toshiki; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2529 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome. Issue 11 (27th August 2020) Authors: Yamada, Mamiko; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2709 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗