Found: 139
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Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 553, doi. 10.1038/jhg.2015.53
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- Publication type:
- Article
Clinical features and management of organic acidemias in Japan.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 12, p. 769, doi. 10.1038/jhg.2013.97
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- Publication type:
- Article
Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 5, p. 285, doi. 10.1038/jhg.2013.17
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- Publication type:
- Article
The Population-Attributable Fractions of Small-for-Gestational-Age Births: Results from the Japan Birth Cohort Consortium.
- Published in:
- Nutrients, 2024, v. 16, n. 2, p. 186, doi. 10.3390/nu16020186
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- Publication type:
- Article
Novel Compound Heterozygous AIRE mutations in a Japanese Patient with APECED.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2004, v. 17, n. 6, p. 917, doi. 10.1515/jpem.2004.17.6.917
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- Publication type:
- Article
GH and GnRH Analog Treatment in Children who Enter Puberty at Short Stature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1997, v. 10, n. 6, p. 623, doi. 10.1515/jpem.1997.10.6.623
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- Publication type:
- Article
A recurrent de novo FAM111A mutation causes kenny-caffey syndrome type 2.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 4, p. 992, doi. 10.1002/jbmr.2091
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- Publication type:
- Article
Perioperative management of living-donor liver transplantation for methylmalonic acidemia.
- Published in:
- Pediatric Anesthesia, 2016, v. 26, n. 7, p. 694, doi. 10.1111/pan.12930
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- Publication type:
- Article
Association Between Smoking and Hypertension in Pregnancy Among Japanese Women: A Meta-analysis of Birth Cohort Studies in the Japan Birth Cohort Consortium (JBiCC) and JECS.
- Published in:
- Journal of Epidemiology, 2023, v. 33, n. 10, p. 498, doi. 10.2188/jea.JE20220076
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- Publication type:
- Article
Association between women’s perceived ideal gestational weight gain during pregnancy and pregnancy outcomes.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29936-z
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- Publication type:
- Article
Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 91, doi. 10.1038/jhg.2010.142
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- Publication type:
- Article
Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 454, doi. 10.1007/s10038-008-0269-z
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- Publication type:
- Article
Abstract 102: Once-weekly somapacitan versus daily growth hormone in children born small for gestational age: 1-year results from a randomised phase 2 trial.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2022, v. 26, p. 44, doi. 10.4103/2230-8210.363604
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- Publication type:
- Article
Etiology of liver dysfunction after liver transplantation in children with metabolic disorders.
- Published in:
- Hepatology Research, 2020, v. 50, n. 5, p. 635, doi. 10.1111/hepr.13487
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- Publication type:
- Article
Reply to Shakira et al.: Validation of a food frequency questionnaire for Japanese pregnant women in mid to late pregnancy.
- Published in:
- 2019
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- Publication type:
- letter
Maternal vegetable intake in early pregnancy and wheeze in offspring at the age of 2 years.
- Published in:
- 2018
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- Publication type:
- journal article
Developments in the Management of Growth Hormone Deficiency: Clinical Utility of Somapacitan.
- Published in:
- Drug Design, Development & Therapy, 2024, v. 18, p. 291, doi. 10.2147/DDDT.S315172
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- Publication type:
- Article
Somapacitan in children born small for gestational age: a multi-centre, open-label, controlled phase 2 study.
- Published in:
- European Journal of Endocrinology, 2023, v. 188, n. 1, p. 1, doi. 10.1093/ejendo/lvac008
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- Publication type:
- Article
Quantification of androgens and their precursors in full-term human placenta.
- Published in:
- European Journal of Endocrinology, 2021, v. 185, n. 5, p. K7, doi. 10.1530/EJE-21-0312
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- Publication type:
- Article
Growth Hormone Research Society perspective on the development of long-acting growth hormone preparations.
- Published in:
- European Journal of Endocrinology, 2016, v. 174, n. 6, p. C1, doi. 10.1530/eje-16-0111
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- Publication type:
- Article
Development of a Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone Therapy in Children with Growth Hormone Deficiency: A GloBE-Reg Initiative.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 365, doi. 10.1159/000533763
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- Publication type:
- Article
Efficacy and Safety of Once-Weekly Somatrogon Compared with Once-Daily Somatropin (Genotropin®) in Japanese Children with Pediatric Growth Hormone Deficiency: Results from a Randomized Phase 3 Study.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 3, p. 275, doi. 10.1159/000524600
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- Publication type:
- Article
Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 1, p. 1, doi. 10.1159/000502231
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- Publication type:
- Article
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 3, p. 212, doi. 10.1159/000436965
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- Publication type:
- Article
The Diagnosis of Polycystic Ovary Syndrome during Adolescence.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 6, p. 376, doi. 10.1159/000375530
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- Publication type:
- Article
The Impact of Long-Term Growth Hormone Treatment on Metabolic Parameters in Japanese Patients with Short Stature Born Small for Gestational Age.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 4, p. 272, doi. 10.1159/000358196
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- Publication type:
- Article
Epidemiology of anorexia nervosa in Japanese adolescents.
- Published in:
- BioPsychoSocial Medicine, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s13030-015-0044-2
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- Publication type:
- Article
Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 9, p. 1189, doi. 10.1515/jpem-2022-0120
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- Publication type:
- Article
Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between > 5 and 15.1 years of age.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 9, p. 1047, doi. 10.1515/jpem-2016-0030
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- Publication type:
- Article
Effective GH Replacement With Somapacitan in Children With GHD: REAL4 2-year Results and After Switch From Daily GH.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. 3090, doi. 10.1210/clinem/dgad394
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- Publication type:
- Article
Weekly Somapacitan in GH Deficiency: 4-Year Efficacy, Safety, and Treatment/Disease Burden Results From REAL 3.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 10, p. 2569, doi. 10.1210/clinem/dgad183
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- Publication type:
- Article
Response to Letter to the Editor From Chatelain et al: 'Weekly Somapacitan Is Effective and Well Tolerated in Children With GH Deficiency: The Randomized Phase 3 REAL4 Trial'.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 8, p. e647, doi. 10.1210/clinem/dgad095
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- Publication type:
- Article
Response to Letter to the Editor From Virú-Loza and Chávez-Nomberto: "Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort".
- Published in:
- 2023
- By:
- Publication type:
- Letter to the Editor
Weekly Somapacitan is Effective and Well Tolerated in Children With GH Deficiency: The Randomized Phase 3 REAL4 Trial.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3378, doi. 10.1210/clinem/dgac513
- By:
- Publication type:
- Article
Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3287, doi. 10.1210/clinem/dgac517
- By:
- Publication type:
- Article
Effective GH Replacement With Once-weekly Somapacitan vs Daily GH in Children With GHD: 3-year Results From REAL 3.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. 1357, doi. 10.1210/clinem/dgab928
- By:
- Publication type:
- Article
Once-Weekly Somapacitan vs Daily GH in Children With GH Deficiency: Results From a Randomized Phase 2 Trial.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2020, v. 105, n. 4, p. e1847, doi. 10.1210/clinem/dgz310
- By:
- Publication type:
- Article
Once-Weekly Somapacitan vs Daily GH in Children With GH Deficiency: Results From a Randomized Phase 2 Trial.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Fatality owing to pulmonary hemorrhage following pamidronate disodium administration in a neonate with osteogenesis imperfecta type 2: A case report.
- Published in:
- Clinical Pediatric Endocrinology, 2024, v. 33, n. 2, p. 76, doi. 10.1297/cpe.2023-0061
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- Publication type:
- Article
The long-term safety and effectiveness of growth hormone treatment in Japanese children with short stature born small for gestational age.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 4, p. 159, doi. 10.1297/cpe.29.159
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- Publication type:
- Article
A nationwide questionnaire survey targeting Japanese pediatric endocrinologists regarding transitional care in childhood, adolescent, and young adult cancer survivors.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 2, p. 55, doi. 10.1297/cpe.29.55
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- Publication type:
- Article
Anesthesia management protocol for liver transplantation as treatment for ornithine transcarbamylase deficiency.
- Published in:
- Pediatric Anesthesia, 2023, v. 33, n. 8, p. 620, doi. 10.1111/pan.14691
- By:
- Publication type:
- Article
The influence of a long-term growth hormone treatment on lipid and glucose metabolism: a randomized trial in short Japanese children born small for gestational age.
- Published in:
- International Journal of Pediatric Endocrinology, 2016, v. 2016, p. 1, doi. 10.1186/s13633-016-0036-4
- By:
- Publication type:
- Article
21 hypoglycemia cases with hyperinsulinemia.
- Published in:
- 2013
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- Publication type:
- Abstract
Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060105
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- Publication type:
- Article
Association between perinatal anemia and postpartum depression: A prospective cohort study of Japanese women.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Anal Canal Carcinoma in a Child With Disorders of Sex Development.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 5, p. 1723, doi. 10.1210/jc.2008-2816
- By:
- Publication type:
- Article
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 1, p. 414, doi. 10.1210/jc.2004-0810
- By:
- Publication type:
- Article