Hitoshi Kanno

9PUBLICATIONS
19CO-AUTHORS
Cell and nuclear divisionGenomicsHaematologyRespiratory diseasesNeurology and neuromuscular diseases
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Publications (9)

|Aug 09, 2024
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures.

Takeaki Tamura, Keiko Shimojima Yamamoto, Jun Tohyama

|Jul 09, 2023
Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.

Keiko Shimojima Yamamoto, Takeaki Tamura, Nobuhiko Okamoto

|Apr 13, 2023
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up.

Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka

|Mar 02, 2023
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.

Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura

|Jan 13, 2022
Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis.

Keiko Shimojima Yamamoto, Taiju Utshigisawa, Hiromi Ogura

|Dec 10, 2020
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.

Hiromi Ogura, Shouichi Ohga, Takako Aoki

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Frequent Collaborators

5 joint publications

Toshiyuki Yamamoto

4 joint publications

Keiko Shimojima Yamamoto

3 joint publications

Etsuro Ito

2 joint publications

Hiromasa Yabe