Found: 20
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Mutations That Affect the Surface Expression of TRPV6 Are Associated with the Upregulation of Serine Proteases in the Placenta of an Infant.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12694, doi. 10.3390/ijms222312694
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- Publication type:
- Article
Effective Long-term Pediatric Pegvisomant Monotherapy to Final Height in X-linked Acrogigantism.
- Published in:
- JCEM Case Reports, 2023, v. 1, n. 3, p. 1, doi. 10.1210/jcemcr/luad028
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- Publication type:
- Article
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01087-x
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- Publication type:
- Article
Growth reference charts for children with hypochondroplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 243, doi. 10.1002/ajmg.a.63431
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- Publication type:
- Article
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1228, doi. 10.1002/ajmg.a.62072
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- Publication type:
- Article
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2403, doi. 10.1002/ajmg.a.61781
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- Publication type:
- Article
Clinical report follow up: Type 1 Collagenopathy presenting with a Russell–Silver phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 139, doi. 10.1002/ajmg.a.60680
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- Publication type:
- Article
Cover Image, Volume 176A, Number 11, November 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. i, doi. 10.1002/ajmg.a.61022
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- Publication type:
- Article
Cover Image, Volume 176A, Number 9, September 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1, doi. 10.1002/ajmg.a.40660
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- Publication type:
- Article
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1950, doi. 10.1002/ajmg.a.40484
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- Publication type:
- Article
Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2222, doi. 10.1002/ajmg.a.37731
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- Publication type:
- Article
Attitudes to Exercise and Diabetes in Young People with Type 1 Diabetes Mellitus: A Qualitative Analysis.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0137562
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- Publication type:
- Article
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.
- Published in:
- 2007
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- Publication type:
- journal article
Improvement in glycaemic parameters using SGLT-2 inhibitor and GLP-1 agonist in combination in an adolescent with diabetes mellitus and Prader-Willi syndrome: a case report.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 7, p. 951, doi. 10.1515/jpem-2019-0389
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- Publication type:
- Article
Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01007-z
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- Publication type:
- Article
Remitting diabetes: a new genetic subgroup?
- Published in:
- 2004
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- Publication type:
- Case Study
Remitting Diabetes.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Diagnostic and management challenges from childhood, puberty through to transition in severe insulin resistance due to insulin receptor mutations.
- Published in:
- Pediatric Diabetes, 2017, v. 18, n. 8, p. 835, doi. 10.1111/pedi.12486
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- Publication type:
- Article
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 3, p. 531, doi. 10.1002/jbmr.4200
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- Publication type:
- Article
The continuum of growth hormone–IGF-I axis defects causing short stature: diagnostic and therapeutic challenges.
- Published in:
- Clinical Endocrinology, 2010, v. 72, n. 6, p. 721, doi. 10.1111/j.1365-2265.2009.03775.x
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- Publication type:
- Article