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Author/Creator Honjo, Rachel S.

1. Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses. Issue 1 (11th November 2020)

Authors:
Uchiyama, Yuri; Yamaguchi, Daisuke; Iwama, Kazuhiro; Miyatake, Satoko; Hamanaka, Kohei; Tsuchida, Naomi; Aoi, Hiromi; Azuma, Yoshiteru; Itai, Toshiyuki; Saida, Ken; Fukuda, Hiromi; Sekiguchi, Futoshi; Sakaguchi, Tomohiro; Lei, Ming; Ohori, Sachiko; Sakamoto, Masamune; Kato, Mitsuhiro; Koike, Taka...
Journal:
Human mutation
Issue:
Volume 42:Issue 1(2021)
Page Start:
50
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil. Issue 4 (31st October 2020)

Authors:
Bertola, Débora R.; Castro, Matheus A. A.; Yamamoto, Guilherme L.; Honjo, Rachel S.; Ceroni, José Ricardo; Buscarilli, Michele M.; Freitas, Amanda B.; Malaquias, Alexsandra C.; Pereira, Alexandre C.; Jorge, Alexander A. L.; Passos‐Bueno, Maria Rita; Kim, Chong A.
Other Names:
Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.; Zarate Yuri A guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 184:Issue 4(2020)
Page Start:
896
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry. Issue 5 (12th January 2022)

Authors:
Ali, Taccyanna M.; Linnenkamp, Bianca D. W.; Yamamoto, Guilherme L.; Honjo, Rachel S.; Cabral de Menezes Filho, Hamilton; Kim, Chong Ae; Bertola, Débora R.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 5(2022)
Page Start:
1545
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗