Found: 11
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Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01378-5
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- Publication type:
- Article
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
- Published in:
- Nutrients, 2021, v. 13, n. 11, p. 3828, doi. 10.3390/nu13113828
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- Publication type:
- Article
Two Cases of Fatal Hyperammonemia Syndrome due to Mycoplasma hominis and Ureaplasma urealyticum in Immunocompromised Patients Outside Lung Transplant Recipients.
- Published in:
- Open Forum Infectious Diseases, 2019, v. 6, n. 3, p. N.PAG, doi. 10.1093/ofid/ofz033
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- Publication type:
- Article
Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers.
- Published in:
- Journal of Neurosurgery: Pediatrics, 2023, v. 32, n. 6, p. 649, doi. 10.3171/2023.7.PEDS2354
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- Publication type:
- Article
Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers.
- Published in:
- Journal of Neurosurgery: Pediatrics, 2021, v. 28, n. 2, p. 229, doi. 10.3171/2020.12.PEDS20715
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- Publication type:
- Article
Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02738-x
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- Article
Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency.
- Published in:
- 2015
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- Publication type:
- journal article
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1688, doi. 10.1002/ajmg.a.62686
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- Publication type:
- Article
The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3510, doi. 10.1002/ajmg.a.62469
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- Publication type:
- Article
CLARITY: Co-occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1168, doi. 10.1002/ajmg.a.62096
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- Publication type:
- Article
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.
- Published in:
- 2021
- By:
- Publication type:
- journal article