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You searched for: Author/Creator Fujita, Atsushi

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2. A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. (25th February 2015)

3. A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face. Issue 3 (13th December 2021)

4. A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia. Issue 6 (3rd September 2018)

5. A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma. Issue 4 (23rd January 2014)

8. Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Issue 6 (30th November 2018)