Found: 18
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Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63646
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- Publication type:
- Article
The utilization of genetic counselors by patient support groups.
- Published in:
- Journal of Genetic Counseling, 2024, v. 33, n. 3, p. 506, doi. 10.1002/jgc4.1748
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- Publication type:
- Article
Support and resources for patients with aortic disease.
- Published in:
- Vascular Medicine, 2024, v. 29, n. 3, p. 362, doi. 10.1177/1358863X241237185
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- Publication type:
- Article
Web-based survey investigating cardiovascular complications in hypermobile Ehlers-Danlos syndrome after COVID-19 infection and vaccination.
- Published in:
- PLoS ONE, 2024, v. 19, n. 3, p. 1, doi. 10.1371/journal.pone.0298272
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- Publication type:
- Article
Vascular Disease Patient Information Page: Coping with a serious vascular disease diagnosis.
- Published in:
- Vascular Medicine, 2024, v. 29, n. 1, p. 99, doi. 10.1177/1358863X231225465
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- Publication type:
- Article
Vascular Disease Patient Information Page: Genetic testing for inherited vascular diseases associated with aneurysm and dissection.
- Published in:
- Vascular Medicine, 2023, v. 28, n. 6, p. 618, doi. 10.1177/1358863X231191823
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- Publication type:
- Article
Postnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due to TWIST1 Gene Deletions and Review of the Literature.
- Published in:
- Cleft Palate Craniofacial Journal, 2023, v. 60, n. 8, p. 1021, doi. 10.1177/10556656221090844
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- Article
Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 261, doi. 10.1111/cge.14245
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- Publication type:
- Article
Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2237, doi. 10.1002/ajmg.a.62758
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- Publication type:
- Article
Toward precision medicine in vascular connective tissue disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3340, doi. 10.1002/ajmg.a.62461
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- Publication type:
- Article
Recruitment, retention, and adherence in a clinical trial: The Pediatric Heart Network's Marfan Trial experience.
- Published in:
- Clinical Trials, 2020, v. 17, n. 6, p. 684, doi. 10.1177/1740774520945988
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- Article
Safety and outcome of gastrostomy tube placement in patients with Loeys-Dietz syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
Blood pressure in adults with short stature skeletal dysplasias.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 150, doi. 10.1002/ajmg.a.61402
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- Publication type:
- Article
Sleep disordered breathing in Marfan syndrome: Value of standard screening questionnaires.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1039
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- Publication type:
- Article
A mutation update on the LDS‐associated genes <italic>TGFB2/3</italic> and <italic>SMAD2/3</italic>.
- Published in:
- Human Mutation, 2018, v. 39, n. 5, p. 621, doi. 10.1002/humu.23407
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- Publication type:
- Article
At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.
- Published in:
- Journal of Genetic Counseling, 2017, v. 26, n. 4, p. 669, doi. 10.1007/s10897-017-0081-z
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- Publication type:
- Article
Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.
- Published in:
- 2017
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- Publication type:
- Erratum
Massive hemoptysis in Loeys-Dietz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 725, doi. 10.1002/ajmg.a.37487
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- Publication type:
- Article