Satoshi Watanabe

Nagasaki, Japan

Last Updated: 09/26/2026

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Found 22 publications

Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.

Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.

Journal: Hepatology communications

Published: April 30, 2020

Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism.

Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 23, 2019

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).

Journal: Human genome variation

Published: June 21, 2019

Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis.

Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis.

Journal: Scientific reports

Published: April 12, 2019

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan.

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan.

Journal: Journal of human genetics

Published: February 14, 2019

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

Journal: Journal of human genetics

Published: December 07, 2018

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.

Journal: Journal of human genetics

Published: November 14, 2018

Patients with SATB2-associated syndrome exhibiting multiple odontomas.

Patients with SATB2-associated syndrome exhibiting multiple odontomas.

Journal: American journal of medical genetics. Part A

Published: July 30, 2018

Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome.

Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome.

Journal: Human genome variation

Published: December 22, 2017

A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.

A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.

Journal: CEN case reports

Published: December 12, 2017

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.

Journal: Journal of human genetics

Published: September 07, 2017

Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.

Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.

Journal: EBioMedicine

Published: May 30, 2017

Showing 1-12 of 22

Last Updated: 09/26/2026