Satoshi Watanabe

发表

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

K. Yoshiura, K. Kosaki, H. Moriuchi, 2019, Journal of Human Genetics.

Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

M. Miyajima, H. Arai, N. Matsumoto, 2016, Scientific Reports.

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

H. Kusuhara, S. Ito, H. Takikawa, 2020, Hepatology communications.

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

K. Yoshiura, H. Moriuchi, Y. Hamasaki, 2018, CEN Case Reports.

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation

K. Yoshiura, H. Baba, H. Moriuchi, 2017, Journal of Human Genetics.

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

H. Kusuhara, Y. Hirose, H. Kondou, 2017, EBioMedicine.

A Mutation in PDGFRB in a Family with Infantile Myofibromatosis

K. Yoshiura, A. Kinoshita, H. Moriuchi, 2019 .

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

K. Yoshiura, R. Kosaki, H. Ohashi, 2016, American journal of medical genetics. Part A.

Patients with SATB2‐associated syndrome exhibiting multiple odontomas

Takashi Nakamura, K. Yoshiura, Y. Sugita, 2018, American journal of medical genetics. Part A.

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome

H. Moriuchi, T. Kondoh, M. Kagami, 2017, Journal of Human Genetics.

De novo SOX11 mutations cause Coffin–Siris syndrome

K. Yoshiura, N. Matsumoto, M. Shiina, 2014, Nature Communications.

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

H. Kusuhara, Y. Zen, Toshiaki Shimizu, 2019, Scientific Reports.

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

S. Takada, T. Ogata, K. Yoshiura, 2014, Orphanet Journal of Rare Diseases.

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

K. Yoshiura, K. Kosaki, H. Moriuchi, 2019, Journal of Human Genetics.

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

K. Yoshiura, G. Nishimura, A. Kinoshita, 2019, Journal of Human Genetics.

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

K. Yoshiura, H. Moriuchi, H. Mishima, 2019, Human genome variation.

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

K. Yoshiura, H. Moriuchi, T. Kondoh, 2018, Journal of Human Genetics.

Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia

K. Yoshiura, T. Kondoh, Y. Gohda, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

Identification of 11p14.1‐p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles

K. Yoshiura, H. Moriuchi, Satoshi Watanabe, 2017, American journal of medical genetics. Part A.

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

I. Asahina, H. Moriuchi, T. I, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

M. Miyajima, H. Arai, N. Matsumoto, 2017, Scientific Reports.