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You searched for: Author/Creator Ogi, Tomoo

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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)

2. Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation. Issue 1 (January 2020)

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)

4. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. Issue 18 (28th April 2021)

5. Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. Issue 4 (11th November 2019)

6. Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma. Issue 2 (August 2021)

9. Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee. Issue 3 (12th January 2022)

10. Next-Generation Sequencing to Detect Pathogens in Pediatric Febrile Neutropenia: A Single-Center Retrospective Study of 112 Cases. (4th May 2021)