Found: 31
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Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia.
- Published in:
- Pediatrics International, 2017, v. 59, n. 9, p. 1018, doi. 10.1111/ped.13335
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- Publication type:
- Article
Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
- Published in:
- Pediatrics International, 2016, v. 58, n. 5, p. 431, doi. 10.1111/ped.12924
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- Publication type:
- Article
Differential T-cell response in a young child and neonates with toxic shock syndrome.
- Published in:
- Pediatrics International, 2009, v. 51, n. 1, p. 155, doi. 10.1111/j.1442-200X.2008.02779.x
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- Publication type:
- Article
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 6, p. 353, doi. 10.1038/jhg.2014.34
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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
A Japanese patient with a mild Lenz–Majewski syndrome.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 8, p. 686, doi. 10.1007/s10038-007-0165-y
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- Publication type:
- Article
Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.
- Published in:
- Patient Preference & Adherence, 2023, v. 17, p. 1885, doi. 10.2147/PPA.S417142
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- Publication type:
- Article
Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63612
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- Publication type:
- Article
Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 217, doi. 10.1002/ajmg.a.37978
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- Publication type:
- Article
An Iron-chelating Agent Improved the Cardiac Function in a Patient with Severe Heart Failure Due to Hereditary Hemochromatosis.
- Published in:
- Internal Medicine, 2024, v. 63, n. 2, p. 253, doi. 10.2169/internalmedicine.1809-23
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- Publication type:
- Article
<i>SLC25A13</i> Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074544
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- Publication type:
- Article
Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient with LHX4 Deletion.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 8, p. 4043, doi. 10.1210/jc.2010-0150
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- Publication type:
- Article
Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 2, p. 756, doi. 10.1210/jc.2009-1334
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- Publication type:
- Article
OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 10, p. 3697, doi. 10.1210/jc.2008-0720
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- Publication type:
- Article
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
- Published in:
- Human Genetics, 2010, v. 127, n. 6, p. 721, doi. 10.1007/s00439-010-0820-9
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- Publication type:
- Article
Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 10, p. 1335, doi. 10.1515/jpem-2020-0198
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- Publication type:
- Article
Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 7, p. 963, doi. 10.1515/jpem-2019-0581
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- Publication type:
- Article
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
- Published in:
- European Journal of Endocrinology, 2023, v. 189, n. 6, p. 590, doi. 10.1093/ejendo/lvad163
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- Publication type:
- Article
An immunologically anomalous but considerably bioactive GH produced by a novel GH1 mutation (p.D116E).
- Published in:
- European Journal of Endocrinology, 2009, v. 161, n. 2, p. 301, doi. 10.1530/EJE-09-0178
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- Publication type:
- Article
Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00112-y
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- Publication type:
- Article
KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. 1, doi. 10.1038/s41439-019-0085-3
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- Publication type:
- Article
Hypothalamic Dysfunction in a Female with Isolated Hypogonadotropic Hypogonadism and Compound Heterozygous TACR3 Mutations and Clinical Manifestation in Her Heterozygous Mother.
- Published in:
- 2010
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- Publication type:
- Case Study
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β‐subunit of the insulin receptor (INSR) gene.
- Published in:
- 2019
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- Publication type:
- Case Study
Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia.
- Published in:
- Journal of Dermatology, 2016, v. 43, n. 11, p. 1340, doi. 10.1111/1346-8138.13511
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- Publication type:
- Article
Molecular and clinical features of K<sub>ATP</sub>-channel neonatal diabetes mellitus in Japan.
- Published in:
- Pediatric Diabetes, 2017, v. 18, n. 7, p. 532, doi. 10.1111/pedi.12447
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- Publication type:
- Article
A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.
- Published in:
- Endocrine Journal, 2020, v. 67, n. 11, p. 1099, doi. 10.1507/endocrj.ej20-0044
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- Publication type:
- Article
Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood.
- Published in:
- Endocrine Journal, 2019, v. 66, n. 3, p. 215, doi. 10.1507/endocrj.EJ18-0326
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- Publication type:
- Article
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
- Published in:
- Endocrine Journal, 2017, v. 64, n. 10, p. 947, doi. 10.1507/endocrj.ej17-0150
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- Publication type:
- Article
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.
- Published in:
- Endocrine Journal, 2013, v. 60, n. 8, p. 1013, doi. 10.1507/endocrj.ej13-0023
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- Publication type:
- Article
ACAN mutations as a cause of familial short stature.
- Published in:
- Clinical Pediatric Endocrinology, 2017, v. 26, n. 3, p. 119, doi. 10.1297/cpe.26.119
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- Publication type:
- Article
A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe.
- Published in:
- 2017
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- Publication type:
- Case Study