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Author/Creator Ogi, Tomoo

1. An adolescent case of xeroderma pigmentosum variant confirmed by the onset of sun exposure‐related skin cancer during Crohn's disease treatment. Issue 1 (20th April 2018)

Authors:
Terada, Aoi; Aoshima, Masahiro; Tanizaki, Hideaki; Nakazawa, Yuka; Ogi, Tomoo; Tokura, Yoshiki; Moriwaki, Shinichi
Journal:
Journal of cutaneous immunology and allergy
Issue:
Volume 1:Issue 1(2018)
Page Start:
23
Record Type:
Journal Article
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2. Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation. Issue 1 (January 2020)

Authors:
Murase, Yuya; Takeichi, Takuya; Kawamoto, Akane; Tanahashi, Kana; Okuno, Yusuke; Takama, Hiroyuki; Shimizu, Eri; Ishikawa, Junko; Ogi, Tomoo; Akiyama, Masashi
Journal:
Journal of dermatological science
Issue:
Volume 97:Issue 1(2020)
Page Start:
50
Record Type:
Journal Article
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3. Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report. Issue 3 (23rd January 2020)

Authors:
Nagata, Tadashi; Matsushita, Masaki; Mishima, Kenichi; Kamiya, Yasunari; Kato, Kohji; Toyama, Miho; Ogi, Tomoo; Ishiguro, Naoki; Kitoh, Hiroshi
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 3(2020)
Page Start:
n/a
Record Type:
Journal Article
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4. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. Issue 18 (28th April 2021)

Authors:
Botta, Elena; Theil, Arjan F; Raams, Anja; Caligiuri, Giuseppina; Giachetti, Sarah; Bione, Silvia; Accadia, Maria; Lombardi, Anita; Smith, Desiree E C; Mendes, Marisa I; Swagemakers, Sigrid M A; van der Spek, Peter J; Salomons, Gajja S; Hoeijmakers, Jan H J; Yesodharan, Dhanya; Nampoothiri, Sheel...
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 18(2021)
Page Start:
1711
Record Type:
Journal Article
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5. Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. Issue 4 (11th November 2019)

Authors:
Kato, Kohji; Oka, Yasuyoshi; Muramatsu, Hideki; Vasilev, Filipp F; Otomo, Takanobu; Oishi, Hisashi; Kawano, Yoshihiko; Kidokoro, Hiroyuki; Nakazawa, Yuka; Ogi, Tomoo; Takahashi, Yoshiyuki; Saitoh, Shinji
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 4(2020)
Page Start:
245
Record Type:
Journal Article
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6. Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma. Issue 2 (August 2021)

Authors:
Ito, Yasutoshi; Takeichi, Takuya; Ikeda, Kenta; Tanahashi, Kana; Yoshikawa, Takenori; Murase, Yuya; Muro, Yoshinao; Kawakami, Yoshio; Nakamura, Yasuo; Matsuyama, Kanako; Muto, Jun; Oiso, Naoki; Morizane, Shin; Sugiura, Kazumitsu; Suga, Yasushi; Seishima, Mariko; Kawada, Akira; Ogi, Tomoo; Akiyama...
Journal:
Journal of dermatological science
Issue:
Volume 103:Issue 2(2021)
Page Start:
116
Record Type:
Journal Article
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8. Expanding the phenotype of biallelic loss‐of‐function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications. Issue 1 (20th October 2020)

Authors:
Kato, Kohji; Mizuno, Seiji; Morton, Jenny; Toyama, Miho; Hara, Yuichiro; Wasmer, Evangeline; Lehmann, Alan; Ogi, Tomoo
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
282
Record Type:
Journal Article
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9. Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee. Issue 3 (12th January 2022)

Authors:
Iwanaga, Akira; Utani, Atsushi; Koike, Yuta; Okubo, Yumi; Kuwatsuka, Yutaka; Endo, Yuichiro; Tanizaki, Hideaki; Wataya‐Kaneda, Mari; Hatamochi, Atsushi; Minaga, Kosuke; Ogi, Tomoo; Yamamoto, Yosuke; Ikeda, Satoshi; Tsuiki, Eiko; Tamura, Hiroshi; Maemura, Koji; Kitaoka, Takashi; Murota, Hiroyuki
Journal:
Journal of dermatology
Issue:
Volume 49:Issue 3(2022)
Page Start:
e91
Record Type:
Journal Article
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10. Next-Generation Sequencing to Detect Pathogens in Pediatric Febrile Neutropenia: A Single-Center Retrospective Study of 112 Cases. (4th May 2021)

Authors:
Horiba, Kazuhiro; Torii, Yuka; Okumura, Toshihiko; Takeuchi, Suguru; Suzuki, Takako; Kawada, Jun-ichi; Muramatsu, Hideki; Takahashi, Yoshiyuki; Ogi, Tomoo; Ito, Yoshinori
Journal:
Open forum infectious diseases
Issue:
Volume 8:Number 11(2021)
Page Start:
Record Type:
Journal Article
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