Kazuki Yamazawa

16PUBLICATIONS
11CO-AUTHORS
Indian languagesOther history, heritage and archaeology not elsewhere classifiedNeurogeneticsCancer diagnosisCell and nuclear division
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Publications (16)

|May 12, 2026
Phenotypic and Genetic Insights Into CNOT3-Related Intellectual Developmental Disorder of Speech Delay, Autism, and Dysmorphic Faces (IDDSADF) From the First Two Japanese Cases.

|Mar 19, 2026
Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population.

Kazuki Yamazawa, Arisa Ueki, Asami Kuga

|Sep 26, 2025
Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity.

Machiko Toki, Kazushige Tsunoda, Tetsumin So

|Jul 24, 2025
Proposal for a Germline Expert Panel to Improve Variant Reclassification in Japan.

Kazuki Yamazawa

|Jun 18, 2025
A de novo HK1 Variant in a Boy Fulfilling the Diagnostic Criteria for Tuberous Sclerosis Complex: Expanding the Phenotypic Spectrum of NEDVIBA.

Daisuke Ariyasu, Hiroaki Sato, Hideo Cho

|Jan 10, 2024
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations.

Moeko Nakashima, Tomoko Shiroshima, Masahiro Fukaya

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Frequent Collaborators

3 joint publications

Masayo Kagami

2 joint publications

Tsutomu Ogata

1 joint publications

Hideki Mutai

1 joint publications

Kenji Shimizu