Found: 11
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Hyponatremia in babies: a 11-year single-center study.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1338404
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- Publication type:
- Article
Hypercalcemia in Children Following a Discontinuation of Denosumab Therapy: A Case Report and Literature Review.
- Published in:
- Clinical Pediatrics, 2024, v. 63, n. 6, p. 750, doi. 10.1177/00099228231194427
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- Publication type:
- Article
Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy.
- Published in:
- 2023
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- Publication type:
- Case Study
Novel miRNA Biomarkers for Patients With Duchenne Muscular Dystrophy.
- Published in:
- Frontiers in Neurology, 2022, v. 14, p. 1, doi. 10.3389/fneur.2022.921785
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- Publication type:
- Article
Use of RNA-sequencing to detect abnormal transcription of the collagen α-2 (VI) chain gene that can lead to Bethlem myopathy.
- Published in:
- International Journal of Molecular Medicine, 2021, v. 47, n. 3, p. N.PAG, doi. 10.3892/ijmm.2021.4861
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- Publication type:
- Article
The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 12, p. 1605, doi. 10.1515/jpem-2020-0030
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- Publication type:
- Article
Corrigendum: Serum MyomiRs as Biomarkers for Female Carriers of Duchenne/Becker Muscular Dystrophy.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Serum MyomiRs as Biomarkers for Female Carriers of Duchenne/Becker Muscular Dystrophy.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.563609
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- Publication type:
- Article
Clinical and genetic characteristics of female dystrophinopathy carriers.
- Published in:
- Molecular Medicine Reports, 2019, v. 19, n. 4, p. 3035
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- Publication type:
- Article
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
- Published in:
- 2017
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- Publication type:
- journal article
Novel compound heterozygous PLEC mutations lead to early-onset limb-girdle muscular dystrophy 2Q.
- Published in:
- Molecular Medicine Reports, 2017, v. 15, n. 5, p. 2760, doi. 10.3892/mmr.2017.6309
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- Publication type:
- Article