Found: 39
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Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26).
- Published in:
- Clinical Genetics, 1996, v. 50, n. 4, p. 220, doi. 10.1111/j.1399-0004.1996.tb02630.x
- By:
- Publication type:
- Article
Eating Attitudes Test in Boys and Girls Aged 6-18 Years: Decrease in Concerns with Eating in Boys and the Increase in Girls with Their Ages.
- Published in:
- Psychopathology, 1993, v. 26, n. 3/4, p. 117, doi. 10.1159/000284810
- By:
- Publication type:
- Article
Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.
- Published in:
- Yonago Acta Medica, 2024, v. 67, n. 2, p. 93, doi. 10.33160/yam.2024.05.010
- By:
- Publication type:
- Article
Factors Related to Young People's Willingness to Perform Basic Life Support.
- Published in:
- Yonago Acta Medica, 2023, v. 66, n. 1, p. 120, doi. 10.33160/yam.2023.02.014
- By:
- Publication type:
- Article
Bystanders' Willingness to Perform Basic Life Support and Its Relationship with Facilitative and Obstructive Factors: A Nationwide Survey in Japan.
- Published in:
- Yonago Acta Medica, 2023, v. 66, n. 1, p. 67, doi. 10.33160/yam.2023.02.008
- By:
- Publication type:
- Article
Cognitive and Emotional Changes in Peer Educators of Type 2 Diabetes Patients After Starting Peer-Support Activities.
- Published in:
- Yonago Acta Medica, 2022, v. 65, n. 4, p. 303, doi. 10.33160/yam.2022.11.007
- By:
- Publication type:
- Article
Effects of a Self-efficacy Theory-Based Training Program for Peers of Patients with Type 2 Diabetes.
- Published in:
- Yonago Acta Medica, 2020, v. 63, n. 4, p. 282, doi. 10.33160/yam.2020.11.006
- By:
- Publication type:
- Article
Impact of Hands-on Experience of a Cadaver Dissection on the Professional Identity Formation of Health Sciences Students.
- Published in:
- Yonago Acta Medica, 2019, v. 62, n. 1, p. 131, doi. 10.33160/yam.2019.03.018
- By:
- Publication type:
- Article
A Conceptual Model for Quality of Life Among People with Type 2 Diabetes in the Philippines.
- Published in:
- Yonago Acta Medica, 2019, v. 62, n. 1, p. 53, doi. 10.33160/yam.2019.03.008
- By:
- Publication type:
- Article
A Randomized Placebo-controlled Trial of an Oral Preparation of High Molecular Weight Fucoidan in Patients with Type 2 Diabetes with Evaluation of Taste Sensitivity.
- Published in:
- Yonago Acta Medica, 2019, v. 62, n. 1, p. 14, doi. 10.33160/yam.2019.03.003
- By:
- Publication type:
- Article
Qualitative Analysis of the Psychosocial Adaptation Process in Children with Chronic Kidney Disease: Toward Effective Support During Transition from Childhood to Adulthood.
- Published in:
- Yonago Acta Medica, 2018, v. 61, n. 3, p. 166, doi. 10.33160/yam.2018.09.004
- By:
- Publication type:
- Article
Childhood dietary intake: Comparison between anorexia nervosa and healthy leanness.
- Published in:
- Pediatrics International, 2019, v. 61, n. 1, p. 73, doi. 10.1111/ped.13730
- By:
- Publication type:
- Article
Gender differences in childhood food preference: Evaluation using a subjective picture choice method.
- Published in:
- Pediatrics International, 2014, v. 56, n. 3, p. 389, doi. 10.1111/ped.12276
- By:
- Publication type:
- Article
Castleman disease in a child with short stature.
- Published in:
- Pediatrics International, 2012, v. 54, n. 5, p. 720, doi. 10.1111/j.1442-200X.2012.03589.x
- By:
- Publication type:
- Article
Variation analysis of β<sub>3</sub>-adrenergic receptor and melanocortin-4 receptor genes in childhood obesity.
- Published in:
- Pediatrics International, 2007, v. 49, n. 2, p. 133, doi. 10.1111/j.1442-200X.2007.02334.x
- By:
- Publication type:
- Article
Japan Today Criteria for medical intervention in obese children: A new definition of ‘Obesity disease’ in Japanese children.
- Published in:
- Pediatrics International, 2003, v. 45, n. 5, p. 642, doi. 10.1046/j.1442-200X.2003.01795.x
- By:
- Publication type:
- Article
Aromatase Excess Syndrome: Identification of Cryptic Duplications and Deletions Leading to Gain of Function of CYP19A1 and Assessment of Phenotypic Determinants.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 6, p. E1035, doi. 10.1210/jc.2011-0145
- By:
- Publication type:
- 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
Mutation at Cleavage Site of Insulin-Like Growth Factor Receptor in a Short-Stature Child Born with Intrauterine Growth Retardation.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 8, p. 4679, doi. 10.1210/jc.2004-1947
- By:
- Publication type:
- Article
The Knowledge of Pharmacology and Nursing Practice for Children with Idiopathic Nephrotic Syndrome.
- Published in:
- Journal of Japan Academy of Nursing Science, 2021, v. 40, p. 430, doi. 10.5630/jans.40.430
- By:
- Publication type:
- Article
The Knowledge of Pharmacology and Nursing Practice for Children with Idiopathic Nephrotic Syndrome.
- Published in:
- Journal of Japan Academy of Nursing Science, 2020, v. 40, p. 430, doi. 10.5630/jans.40.430
- By:
- Publication type:
- Article
Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.
- Published in:
- Human Genetics, 2000, v. 107, n. 5, p. 433, doi. 10.1007/s004390000377
- By:
- Publication type:
- Article
The process by which mothers of children with special healthcare needs evolve their connections with the community.
- Published in:
- Nursing & Health Sciences, 2021, v. 23, n. 4, p. 957, doi. 10.1111/nhs.12887
- By:
- Publication type:
- Article
Fat areas on the extremities in normal weight and overweight children and adolescents: Comparison between age-related and weight-related changes in adiposity.
- Published in:
- American Journal of Human Biology, 1996, v. 8, n. 4, p. 427, doi. 10.1002/(SICI)1520-6300(1996)8:4<427::AID-AJHB2>3.0.CO;2-V
- By:
- Publication type:
- Article
Usefulness of a stature-based standard of skinfold thickness, especially for short children.
- Published in:
- American Journal of Human Biology, 1995, v. 7, n. 2, p. 237, doi. 10.1002/ajhb.1310070213
- By:
- Publication type:
- Article
Skinfold Thickness at Ulnar, Triceps, Subscapular, and Suprailiac Regions in 1,656 Japanese Children Aged 3-11 Years.
- Published in:
- Annals of Nutrition & Metabolism, 1992, v. 36, n. 5/6, p. 251, doi. 10.1159/000177726
- By:
- Publication type:
- Article
Prevalence of Obesity, Leanness and Anorexia nervosa in Japanese Boys and Girls Aged 12-14 Years.
- Published in:
- Annals of Nutrition & Metabolism, 1990, v. 34, n. 4, p. 208, doi. 10.1159/000177588
- By:
- Publication type:
- Article
A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.
- Published in:
- Endocrine Journal, 2017, v. 64, n. 1, p. 83, doi. 10.1507/endocrj.ej16-0280
- By:
- Publication type:
- Article
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
- Published in:
- Endocrine Journal, 2015, v. 62, n. 1, p. 101, doi. 10.1507/endocrj.ej14-0437
- By:
- Publication type:
- Article
Leprechaunism (Donohue syndrome): A case bearing novel compound heterozygous mutations in the insulin receptor gene.
- Published in:
- Endocrine Journal, 2013, v. 60, n. 1, p. 107, doi. 10.1507/endocrj.ej12-0289
- By:
- Publication type:
- Article
Excessive Food Aversion, Compulsive Exercise and Decreased Height Gain Due to Fear of Obesity in a Prepubertal Girl.
- Published in:
- Psychotherapy & Psychosomatics, 1994, v. 62, n. 3/4, p. 203, doi. 10.1159/000288924
- By:
- Publication type:
- Article
Switching to burosumab from conventional therapy in siblings with relatively well-controlled X-linked hypophosphatemia.
- Published in:
- Clinical Pediatric Endocrinology, 2024, v. 33, n. 1, p. 27, doi. 10.1297/cpe.2023-0043
- By:
- Publication type:
- Article
Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2529, doi. 10.1093/hmg/ddm145
- By:
- Publication type:
- Article
Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.
- Published in:
- Clinical Endocrinology, 2015, v. 83, n. 6, p. 834, doi. 10.1111/cen.12791
- By:
- Publication type:
- Article
Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor ( IGF1 R) mutation.
- Published in:
- Clinical Endocrinology, 2014, v. 81, n. 2, p. 312, doi. 10.1111/cen.12317
- By:
- Publication type:
- Article
Novel missense mutation in the IGF- I receptor L2 domain results in intrauterine and postnatal growth retardation.
- Published in:
- Clinical Endocrinology, 2012, v. 77, n. 2, p. 246, doi. 10.1111/j.1365-2265.2012.04357.x
- By:
- Publication type:
- Article
Analysis of the Steroidogenic Acute Regulatory Protein (StAR) Gene in Japanese Patients with Congenital Lipoid Adrenal Hyperplasia.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 4, p. 571, doi. 10.1093/hmg/6.4.571
- By:
- Publication type:
- Article
Genotype-Structure-Phenotype Correlations of Disease-Associated IGF1R Variants and Similarities to Those of INSR Variants.
- Published in:
- 2021
- By:
- Publication type:
- journal article