Found: 24
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A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 5, p. 1, doi. 10.1101/mcs.a006110
- By:
- Publication type:
- Article
Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Childhood hypophosphatasia: to treat or not to treat.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 2, p. 202, doi. 10.1002/jbmr.4454
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- Publication type:
- Article
Gender dysphoria in adolescents with Ehlers-Danlos syndrome.
- Published in:
- SAGE Open Medicine, 2022, v. 10, p. 1, doi. 10.1177/20503121221146074
- By:
- Publication type:
- Article
Development of a Multidisciplinary Clinic for Patients with Ehlers Danlos Syndromes: Considerations and Strategies.
- Published in:
- Journal of Multidisciplinary Healthcare, 2023, v. 16, p. 191, doi. 10.2147/JMDH.S396221
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- Publication type:
- Article
Gender dysphoria in adolescents with Ehlers–Danlos syndrome.
- Published in:
- SAGE Open Medicine, 2022, v. 10, p. 1, doi. 10.1177/20503121221146074
- By:
- Publication type:
- Article
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.201911739
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- Publication type:
- Article
A retrospective review of initial bisphosphonate infusion in an inpatient vs. outpatient setting for bisphosphonate naïve patients.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1105, doi. 10.1515/jpem-2016-0318
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- Publication type:
- Article
Evaluation and comparison of safety, convenience and cost of administering intravenous pamidronate infusions to children in the home and ambulatory care settings.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 5/6, p. 493, doi. 10.1515/jpem-2011-0498
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- Publication type:
- Article
Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 7, p. 1787, doi. 10.1210/clinem/dgad035
- By:
- Publication type:
- Article
Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition?
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 6, p. 748, doi. 10.1002/ccr3.931
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- Publication type:
- Article
Liver transplant for congenital factor VII deficiency.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 10, p. 1886, doi. 10.1002/pbc.25008
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- Publication type:
- Article
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.
- Published in:
- Osteoporosis International, 2024, v. 35, n. 3, p. 439, doi. 10.1007/s00198-023-06859-8
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- Publication type:
- Article
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
- Published in:
- Osteoporosis International, 2024, v. 35, n. 3, p. 431, doi. 10.1007/s00198-023-06844-1
- By:
- Publication type:
- Article
Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4‐related disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1515, doi. 10.1002/ajmg.a.62113
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- Publication type:
- Article
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2428, doi. 10.1002/ajmg.a.38287
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- Publication type:
- Article
Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1726, doi. 10.1002/ajmg.a.35951
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- Publication type:
- Article
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 320, doi. 10.1002/ajmg.a.35817
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- Publication type:
- Article
Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.
- Published in:
- Cytogenetic & Genome Research, 2016, v. 147, n. 1, p. 31, doi. 10.1159/000441585
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- Publication type:
- Article
Zellweger Syndrome and Associated Brain Malformations: Report of a Novel Peroxin1 (PEX1) Mutation in a Native American Infant.
- Published in:
- 2012
- By:
- Publication type:
- Case Study