Found: 10
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A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2286, doi. 10.1002/ajmg.a.37182
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- Publication type:
- Article
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1638, doi. 10.1002/ajmg.a.35979
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- Publication type:
- Article
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3168, doi. 10.1002/ajmg.a.35456
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- Publication type:
- Article
Glucocorticoids Decrease Interleukin-6 Levels and Induce Mineralization of Cultured Osteogenic Cells from Children with Fibrous Dysplasia.
- Published in:
- Journal of Bone & Mineral Research, 1999, v. 14, n. 7, p. 1104, doi. 10.1359/jbmr.1999.14.7.1104
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- Article
Leptin Expression in Human Mammary Epithelial Cells and Breast Milk.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 5, p. 1810, doi. 10.1210/jcem.83.5.4952
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- Publication type:
- Article
A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 7/8, p. 741, doi. 10.1515/jpem-2012-0080
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- Publication type:
- Article
Genome sequencing in persistently unsolved white matter disorders.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 144, doi. 10.1002/acn3.50957
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- Publication type:
- Article
Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics.
- Published in:
- Clinical Pharmacology & Therapeutics, 2021, v. 110, n. 3, p. 555, doi. 10.1002/cpt.2328
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- Article
Brain-Lung-Thyroid Disease: Clinical Features of a Kindred With a Novel Thyroid Transcription Factor 1 Mutation.
- Published in:
- 2012
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- Case Study
Comparison of variants in TPMT and NUDT15 between sequencing and genotyping methods in a multistate pediatric institution.
- Published in:
- CTS: Clinical & Translational Science, 2023, v. 16, n. 8, p. 1352, doi. 10.1111/cts.13539
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- Publication type:
- Article