Found: 29
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Applications of genomic research in pediatric endocrine diseases.
- Published in:
- Clinical & Experimental Pediatrics, 2023, v. 66, n. 12, p. 520, doi. 10.3345/cep.2022.00948
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- Publication type:
- Article
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
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- Publication type:
- Article
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 7, p. 395, doi. 10.1038/jhg.2015.30
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- Publication type:
- Article
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16
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- Publication type:
- Article
Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.
- Published in:
- Experimental & Molecular Medicine EMM, 2024, v. 56, n. 8, p. 1750, doi. 10.1038/s12276-024-01284-1
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- Publication type:
- Article
Visual Hyper-vigilance But Insufficient Mental Representation in Children with Overweight/Obesity: Event-related Potential Study with Visual Go/NoGo Test.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2019, v. 22, n. 3, p. 249, doi. 10.5223/pghn.2019.22.3.249
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- Publication type:
- Article
Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review.
- Published in:
- 2023
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- Publication type:
- Case Study
Ultra‐Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 6, p. 1082, doi. 10.1002/ana.26609
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- Publication type:
- Article
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 5, p. 283, doi. 10.1159/000493468
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- Publication type:
- Article
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 116, doi. 10.1159/000431324
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- Publication type:
- Article
Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 73, doi. 10.1159/000381624
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- Publication type:
- Article
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 4, p. 288, doi. 10.1159/000371466
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- Publication type:
- Article
Pathologic Impact of Insulin Resistance and Sensitivity on the Severity of Liver Histopathology in Pediatric Non-Alcoholic Steatohepatitis.
- Published in:
- Yonsei Medical Journal, 2017, v. 58, n. 4, p. 756, doi. 10.3349/ymj.2017.58.4.756
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- Publication type:
- Article
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
- Published in:
- Molecular Medicine, 2016, v. 22, n. 1, p. 147, doi. 10.2119/molmed.2015.00254
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- Publication type:
- Article
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
- Published in:
- Molecular Medicine, 2016, v. 22, p. 147, doi. 10.2119/molmed.2015.00254
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- Publication type:
- Article
Atypical Manifestation of Carnitine Palmitoyltransferase 1A Deficiency: Hepatosplenomegaly and Nephromegaly.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 3, p. e19, doi. 10.1097/MPG.0b013e3182a95a42
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- Publication type:
- Article
Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 2, p. 109, doi. 10.6065/apem.2346046.023
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- Publication type:
- Article
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 1, p. 54, doi. 10.6065/apem.2346014.007
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- Publication type:
- Article
Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 3, p. 184, doi. 10.6065/apem.2244152.076
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- Publication type:
- Article
Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 2, p. 77, doi. 10.6065/apem.2346108.054
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- Publication type:
- Article
Long-term follow-up on Cushing disease patient after transsphenoidal surgery.
- Published in:
- 2014
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- Publication type:
- Case Study
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2015, v. 20, n. 1, p. 27, doi. 10.6065/apem.2015.20.1.27
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- Publication type:
- Article
Efficacy of growth hormone therapy in adults with childhood-onset growth hormone deficiency.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2014, v. 19, n. 1, p. 32, doi. 10.6065/apem.2014.19.1.32
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- Publication type:
- Article
Pathophysiology and clinical characteristics of hypothalamic obesity in children and adolescents.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2013, v. 18, n. 4, p. 161, doi. 10.6065/apem.2013.18.4.161
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- Publication type:
- Article
Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing.
- Published in:
- Investigative & Clinical Urology, 2024, v. 65, n. 5, p. 487, doi. 10.4111/icu.20230416
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- Publication type:
- Article
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.
- Published in:
- 2021
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- Publication type:
- journal article
Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 9, p. 1, doi. 10.1371/journal.pgen.1010404
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- Publication type:
- Article
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
- Published in:
- Clinical Endocrinology, 2015, v. 83, n. 6, p. 790, doi. 10.1111/cen.12944
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- Publication type:
- Article