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Formulation for Effective Screening and Management of Nonalcoholic Steatohepatitis: Noninvasive NAFLD Management Strategy.Shear wave velocity is a useful marker for managing nonalcoholic steatohepatitisChildbirth and fertility preservation in childhood and adolescent cancer patients: a second national survey of Japanese pediatric endocrinologistsAromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia.Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency.Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision).Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp.Gonadal function, fertility, and reproductive medicine in childhood and adolescent cancer patients: a national survey of Japanese pediatric endocrinologists.H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase DeficiencySuccessful Combined Treatment for Atrophic Thyroiditis With Growth Hormone Deficiency.Different skeletal phenotypes in a mother and two daughters with short stature homeobox-containing haploinsufficiency.Virilizing Adrenocortical Carcinoma Invading the Right Atrium with Histological High-Grade Malignancy and p53 Mutation in a 3-Year-Old Child: Indication of Post Operative Adjuvant Chemotherapy.The levels of serum low-density lipoprotein cholesterol using direct measurement in healthy Japanese school children.A case of female pseudohermaphroditism caused by aromatase deficiency.Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial.Two cases of pseudohypoparathyroidism type ia in duozygotic twins with different phenotypes.Longitudinal growth of the short bones of the hand in a girl with pseudohypoparathyroidism type ia.PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.Obese Japanese children have low bone mineral density after puberty.Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1.Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan.Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty.Metabolic effects of growth hormone replacement in two pediatric patients with growth without growth hormone.A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.Low adiponectin state is associated with metabolic abnormalities in obese children, particularly depending on apolipoprotein E phenotype.Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.Usefulness of serum adiponectin level as a diagnostic marker of metabolic syndrome in obese Japanese children.Criteria of radiological diagnosis for neonates with hypochondroplasia.Lower birth weight and visceral fat accumulation are related to hyperinsulinemia and insulin resistance in obese Japanese children.Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.Spontaneous regression of isolated neurohypophyseal langerhans cell histiocytosis with diabetes insipidus.Occipitocervical Fusion for Severe Atlantoaxial Dislocation in an Underdeveloped Child with Chondrodysplasia Punctata: A Case Report.
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Keisuke Nagasaki
@ast
Keisuke Nagasaki
@en
Keisuke Nagasaki
@es
Keisuke Nagasaki
@nl
type
label
Keisuke Nagasaki
@ast
Keisuke Nagasaki
@en
Keisuke Nagasaki
@es
Keisuke Nagasaki
@nl
prefLabel
Keisuke Nagasaki
@ast
Keisuke Nagasaki
@en
Keisuke Nagasaki
@es
Keisuke Nagasaki
@nl
P106
P31
P496
0000-0002-5882-661X