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Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext21)]: A novel β‐globin gene mutation causing dominantly inherited β‐thalassemia

Pediatric blood & cancer, 2019-09, Vol.66 (9), p.e27871-n/a

2019

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Using the in vitro drug sensitivity test to identify candidate treatments for transient abnormal myelopoiesis

British journal of haematology, 2022-02, Vol.196 (3), p.764-768

2022

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An efficient genetic test flow for multiple congenital anomalies and intellectual disability

Pediatrics international, 2020-05, Vol.62 (5), p.556-561

2020

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Whole‐exome sequencing reveals the subclonal expression of NUP214‐ABL1 fusion gene in T‐cell acute lymphoblastic leukemia

Pediatric blood & cancer, 2020-01, Vol.67 (1), p.e28019-n/a

2020

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17q21.32‐q22 Deletion in a girl with osteogenesis imperfecta, tricho‐dento‐osseous syndrome, and intellectual disability

Congenital anomalies, 2019-03, Vol.59 (2), p.51-52

2019

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A short-term three dimensional culture-based drug sensitivity test is feasible for malignant bone tumors

Human cell : official journal of Human Cell Research Society, 2023-11, Vol.36 (6), p.2152-2161

2023

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Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1349-1353

2015

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Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1

Congenital anomalies, 2018-11, Vol.58 (6), p.191-193

2018

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Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion

Journal of human genetics, 2018-11, Vol.63 (11), p.1185-1188

2018

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Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute lymphoblastic leukemia in Japan

Genes chromosomes & cancer, 2014-11, Vol.53 (11), p.902-910

2014

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Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

Human genome variation, 2019-08, Vol.6 (1), p.36-36, Article 36

2019

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Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.389-393

2015

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A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease

Brain & development (Tokyo. 1979), 2016-06, Vol.38 (6), p.581-584

2016

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De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1550-1554

2014

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Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2873-2878

2014

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Pure duplication of 19p13.3

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2300-2304

2013

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Refinement of the deletion in 8q22.2-q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy

American journal of medical genetics. Part A, 2014-08, Vol.164A (8), p.2104-2108

2014

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DNA elements reducing transcriptional gene silencing revealed by a novel screening strategy

PloS one, 2013-01, Vol.8 (1), p.e54670-e54670

2013

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Networking System Employing near Infrared Spectroscopy for Sugarcane Payment in Japan

Journal of near infrared spectroscopy (United Kingdom), 2013-01, Vol.21 (6), p.477-483

2013

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Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1 -specific mutation

Brain & development (Tokyo. 1979), 2010-10, Vol.32 (9), p.703-707

2010

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Biases and regularities of grapheme-colour associations in Japanese nonsynaesthetic population

Quarterly journal of experimental psychology (2006), 2016-01, Vol.69 (1), p.11-23

2016

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Peak parking-moment analysis: A strategy for the measurement of molecular diffusivity in liquid phase

Chemical engineering science, 2010-06, Vol.65 (12), p.3859-3864

2010

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Establishment and characterization of a novel MDM2/MYCN-co-amplified neuroblastoma cell line, NBN-SHIM, established from a late recurrent stage MS tumor

Human cell : official journal of Human Cell Research Society, 2024-09, Vol.37 (5), p.1602-1609

2024

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A case of de novo acute myeloid leukemia with der(11)t(7;11)(q11;q23)and -7

Journal of pediatric hematology/oncology, 2010-04, Vol.32 (3), p.246-247

2010

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Ewing's sarcoma family of tumor arising in the adrenal gland—Possible diagnostic pitfall in pediatric pathology: Histologic, immunohistochemical, ultrastructural, and molecular study

Human pathology, 2001-09, Vol.32 (9), p.1012-1016

2001

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Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext21)]: A novel β‐globin gene mutation causing dominantly inherited β‐thalassemia

Using the in vitro drug sensitivity test to identify candidate treatments for transient abnormal myelopoiesis

An efficient genetic test flow for multiple congenital anomalies and intellectual disability

Whole‐exome sequencing reveals the subclonal expression of NUP214‐ABL1 fusion gene in T‐cell acute lymphoblastic leukemia

17q21.32‐q22 Deletion in a girl with osteogenesis imperfecta, tricho‐dento‐osseous syndrome, and intellectual disability

A short-term three dimensional culture-based drug sensitivity test is feasible for malignant bone tumors

Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features

Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion

Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute lymphoblastic leukemia in Japan

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features

A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2

Pure duplication of 19p13.3

Refinement of the deletion in 8q22.2-q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy

DNA elements reducing transcriptional gene silencing revealed by a novel screening strategy

Networking System Employing near Infrared Spectroscopy for Sugarcane Payment in Japan

Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1 -specific mutation

Biases and regularities of grapheme-colour associations in Japanese nonsynaesthetic population

Peak parking-moment analysis: A strategy for the measurement of molecular diffusivity in liquid phase

Establishment and characterization of a novel MDM2/MYCN-co-amplified neuroblastoma cell line, NBN-SHIM, established from a late recurrent stage MS tumor

A case of de novo acute myeloid leukemia with der(11)t(7;11)(q11;q23)and -7

Ewing's sarcoma family of tumor arising in the adrenal gland—Possible diagnostic pitfall in pediatric pathology: Histologic, immunohistochemical, ultrastructural, and molecular study

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