Found: 16
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Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Mitochondrial disease patient motivations and barriers to participate in clinical trials.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197513
- By:
- Publication type:
- Article
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 4, p. 696, doi. 10.1002/ana.26716
- By:
- Publication type:
- Article
Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations".
- Published in:
- Annals of Neurology, 2021, v. 89, n. 3, p. 631, doi. 10.1002/ana.25999
- By:
- Publication type:
- Article
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA.
- Published in:
- Frontiers in Genetics, 2015, p. 1, doi. 10.3389/fgene.2015.00199
- By:
- Publication type:
- Article
Expanding Genetic Counselor Roles: A Model for Global Research Development.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 867, doi. 10.3390/genes15070867
- By:
- Publication type:
- Article
UNDERSTANDING "SANCTUARY CITIES".
- Published in:
- Boston College Law Review, 2018, v. 59, n. 5, p. 1704
- By:
- Publication type:
- Article
FEDERAL, ANTI-SANCTUARY LAW: A FAILED APPROACH TO IMMIGRATION ENFORCEMENT AND A POOR SUBSTITUTE FOR REAL REFORM.
- Published in:
- Lewis & Clark Law Review, 2016, v. 20, n. 1, p. 165
- By:
- Publication type:
- Article
RETHINKING INDIRECT VICTIM ELIGIBILITY FOR U NON-IMMIGRANT VISAS TO BETTER PROTECT IMMIGRANT FAMILIES AND COMMUNITIES.
- Published in:
- Stanford Law & Policy Review, 2011, v. 22, n. 2, p. 587
- By:
- Publication type:
- Article
Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 494, doi. 10.1002/jmd2.12316
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- Publication type:
- Article
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
- Published in:
- PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0221829
- By:
- Publication type:
- Article
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2028, doi. 10.1002/humu.24107
- By:
- Publication type:
- Article
MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 499, doi. 10.1002/humu.23723
- By:
- Publication type:
- Article
Long-Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes.
- Published in:
- Journal of the American Heart Association, 2024, v. 13, n. 14, p. 1, doi. 10.1161/JAHA.123.033485
- By:
- Publication type:
- Article
Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1700, doi. 10.1002/ajmg.a.62156
- By:
- Publication type:
- Article