Found: 8
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The Role of Cascade Screening in Heritable Forms of Pulmonary Arterial Hypertension.
- Published in:
- Pulmonary Circulation, 2023, v. 13, n. 3, p. 1, doi. 10.1002/pul2.12259
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- Publication type:
- Article
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.
- Published in:
- 2020
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- Publication type:
- journal article
Genetic counselors on the frontline of precision health.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 1, p. 5, doi. 10.1002/ajmg.c.31610
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- Publication type:
- Article
Chromosome 15q24 microdeletion syndrome.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 68, doi. 10.1186/1750-1172-7-68
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- Publication type:
- Article
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4937, doi. 10.1093/hmg/ddx377
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- Publication type:
- Article
Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki-Lupski syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 500, doi. 10.1002/ajmg.a.36287
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- Publication type:
- Article