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Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants

Endocrine, 2020-10, Vol.70 (1), p.71-77

2020

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The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

Clinical endocrinology (Oxford), 2021-02, Vol.94 (2), p.229-236

2021

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Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation

Clinical endocrinology (Oxford), 2021-06, Vol.94 (6), p.940-948

2021

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Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

Sexual development, 2023-08, Vol.17 (1), p.51-55

2023

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A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands

Frontiers in endocrinology (Lausanne), 2023-01, Vol.13, p.1033074-1033074

2023

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Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency

Clinical Pediatric Endocrinology, 2021, Vol.30(4), pp.155-161

2021

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Initial patient choice of a growth hormone device improves child and adolescent adherence to and therapeutic effects of growth hormone replacement therapy

Journal of Pediatric Endocrinology and Metabolism, 2017-08, Vol.30 (9), p.989

2017

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A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency

The journal of clinical endocrinology and metabolism, 2024-02, Vol.109 (3), p.750-760

2024

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The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency

The journal of clinical endocrinology and metabolism, 2022-11, Vol.107 (12), p.3341-3352

2022

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The High Relevance of 21-Deoxycortisol, /Cortisol, and 11-Deoxycortisol/17[alpha]-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency

The journal of clinical endocrinology and metabolism, 2022-12, Vol.107 (12), p.3341

2022

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Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency

Human molecular genetics, 2022-07, Vol.31 (13), p.2223-2235

2022

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Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome

Pediatric diabetes, 2019-11, Vol.20 (7), p.1035-1040

2019

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BMP2 is a potential causative gene for isolated dextrocardia situs solitus

European journal of medical genetics, 2023-09, Vol.66 (9), p.104820-104820, Article 104820

2023

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Risk of coronary artery lesions in young infants with Kawasaki disease: need for a new diagnostic method

International journal of rheumatic diseases, 2018-03, Vol.21 (3), p.746-754

2018

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Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant

European journal of medical genetics, 2022-11, Vol.65 (11), p.104623-104623, Article 104623

2022

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Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency

Clinical Pediatric Endocrinology, 2021-10, Vol.30 (4), p.155-161

2021

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Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 2023, Vol.17 (1), p.51-55

2023

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Effect of composite clone number on yielding performance of synthetic 1 and synthetic 2 and their characteristics in alfalfa

Japanese Journal of Grassland Science, 1983/10/28, Vol.29(3), pp.183-189

1983

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アルファルファにおける合成系統数と合成1,2代における収量および特性の変化

日本草地学会誌, 1983/10/28, Vol.29(3), pp.183-189

1983

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Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation

Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands

Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency

Initial patient choice of a growth hormone device improves child and adolescent adherence to and therapeutic effects of growth hormone replacement therapy

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency

The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency

The High Relevance of 21-Deoxycortisol, /Cortisol, and 11-Deoxycortisol/17[alpha]-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency

Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency

Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome

BMP2 is a potential causative gene for isolated dextrocardia situs solitus

Risk of coronary artery lesions in young infants with Kawasaki disease: need for a new diagnostic method

Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant

Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency

Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

Effect of composite clone number on yielding performance of synthetic 1 and synthetic 2 and their characteristics in alfalfa

アルファルファにおける合成系統数と合成1,2代における収量および特性の変化

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