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The Keio Journal of Medicine
|
April 20, 2025
Pancreatic Cancer in Hereditary Breast and Ovarian Cancer Syndrome: Is Early Detection Possible?
Kodai Abe, Minoru Kitago, Yusuke Kobayashi, et al.
European Journal of Medical Genetics
|
August 19, 2025
Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant
Yuya Tanaka, Satoru Ikenoue, Akihisa Ueno, et al.
American Journal of Medical Genetics. Part A
|
February 26, 2024
Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy
Megumi Nishino, Mai Tanaka, Kazuo Imagawa, et al.
The Keio Journal of Medicine
|
March 12, 2025
Potential New Tumors Associated with Hereditary Breast and Ovarian Cancer (HBOC)
Kohei Nakamura, Kenta Masuda, Tomoko Seki, et al.
The Keio Journal of Medicine
|
April 2, 2025
Exploring Breast Cancer Risk Management in HBOC Patients: Image Surveillance Versus Risk-reducing Surgery
Tomoko Seki, Yusuke Kobayashi, Kenta Masuda, et al.
The Journal of Allergy and Clinical Immunology. Global
|
September 10, 2024
Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure
Koji Saito, Minoru Fujimoto, Eiji Funajima, et al.
Human Molecular Genetics
|
July 21, 2022
De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments
Hisato Suzuki, Simo Li, Tomoharu Tokutomi, et al.
European Journal of Medical Genetics
|
August 16, 2024
Digital clubbing without hypoxia for lysinuric protein intolerance
Daisuke Watanabe, Yuko Tsujioka, Daisuke Nakato, et al.
Human Genome Variation
|
June 12, 2023
Oculofaciocardiodental syndrome caused by a novel BCOR variant
Tomoyo Yamashita, Junko Hotta, Yukiko Jogu, et al.
Scientific Reports
|
March 19, 2024
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
Mamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, et al.
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of 9
Search research articles
Search
Showing results (61-70 of 86) with videos related to
Sort By:
Page
of 9
The Keio Journal of Medicine
|
April 20, 2025
Pancreatic Cancer in Hereditary Breast and Ovarian Cancer Syndrome: Is Early Detection Possible?
Kodai Abe, Minoru Kitago, Yusuke Kobayashi, et al.
European Journal of Medical Genetics
|
August 19, 2025
Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant
Yuya Tanaka, Satoru Ikenoue, Akihisa Ueno, et al.
American Journal of Medical Genetics. Part A
|
February 26, 2024
Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy
Megumi Nishino, Mai Tanaka, Kazuo Imagawa, et al.
The Keio Journal of Medicine
|
March 12, 2025
Potential New Tumors Associated with Hereditary Breast and Ovarian Cancer (HBOC)
Kohei Nakamura, Kenta Masuda, Tomoko Seki, et al.
The Keio Journal of Medicine
|
April 2, 2025
Exploring Breast Cancer Risk Management in HBOC Patients: Image Surveillance Versus Risk-reducing Surgery
Tomoko Seki, Yusuke Kobayashi, Kenta Masuda, et al.
The Journal of Allergy and Clinical Immunology. Global
|
September 10, 2024
Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure
Koji Saito, Minoru Fujimoto, Eiji Funajima, et al.
Human Molecular Genetics
|
July 21, 2022
De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments
Hisato Suzuki, Simo Li, Tomoharu Tokutomi, et al.
European Journal of Medical Genetics
|
August 16, 2024
Digital clubbing without hypoxia for lysinuric protein intolerance
Daisuke Watanabe, Yuko Tsujioka, Daisuke Nakato, et al.
Human Genome Variation
|
June 12, 2023
Oculofaciocardiodental syndrome caused by a novel BCOR variant
Tomoyo Yamashita, Junko Hotta, Yukiko Jogu, et al.
Scientific Reports
|
March 19, 2024
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
Mamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, et al.
Page
of 9