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Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare ABCC6 Mutation.
- Published in:
- Journal of Personalized Medicine, 2024, v. 14, n. 1, p. 54, doi. 10.3390/jpm14010054
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- Article
Screening/diagnosis of pediatric endocrine disorders through the artificial intelligence model in different language settings.
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- European Journal of Pediatrics, 2024, v. 183, n. 6, p. 2655, doi. 10.1007/s00431-024-05527-1
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- Article
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 290, doi. 10.1111/cge.13588
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- Article
The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency.
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- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 3/4, p. 295, doi. 10.1515/jpem-2011-0362
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- Publication type:
- Article
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02878-0
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- Publication type:
- Article
Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.
- Published in:
- BMC Endocrine Disorders, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12902-022-00941-8
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- Publication type:
- Article
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.808919
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- Publication type:
- Article
Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.
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- Journal of Diabetes Investigation, 2021, v. 12, n. 1, p. 48, doi. 10.1111/jdi.13322
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- Publication type:
- Article
A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01048-0
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- Article
Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report.
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- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01055-1
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- Publication type:
- Article
A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 6, p. 1, doi. 10.1002/mgg3.1951
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- Article
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 4, p. 972, doi. 10.1210/clinem/dgab863
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- Publication type:
- Article
Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants.
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- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1066320
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- Publication type:
- Article
Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.
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- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-03952-z
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- Publication type:
- Article
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
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- BMC Endocrine Disorders, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12902-023-01527-8
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- Publication type:
- Article
Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78205-5
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- Article
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3189, doi. 10.1002/ajmg.a.38473
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- Publication type:
- Article
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 4, p. 857, doi. 10.3390/ijms18040857
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- Article
Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8484, doi. 10.3390/ijms25158484
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- Publication type:
- Article