Found: 13
Select item for more details and to access through your institution.
Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization.
- Published in:
- Movement Disorders, 2010, v. 25, n. 10, p. 1364, doi. 10.1002/mds.23046
- By:
- Publication type:
- Article
Analytical validation of whole exome and whole genome sequencing for clinical applications.
- Published in:
- BMC Medical Genomics, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8794-7-20
- By:
- Publication type:
- Article
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 9, p. 682, doi. 10.1038/jhg.2011.78
- By:
- Publication type:
- Article
The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 12, p. 1161, doi. 10.1002/pd.4446
- By:
- Publication type:
- Article
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
- Published in:
- Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0207-6
- By:
- Publication type:
- Article
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
- Published in:
- Clinical Chemistry, 2017, v. 63, n. 4, p. 842, doi. 10.1373/clinchem.2016.259036
- By:
- Publication type:
- Article
Fabry disease: Detection of gene rearrangements in the human α-Galactosidase A Gene by Multiplex PCR Amplification.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 108, doi. 10.1002/humu.1380020208
- By:
- Publication type:
- Article
Clinical Pharmacogenomic MT‐RNR1 Screening for Aminoglycoside‐Induced Ototoxicity and the Post‐Test Counseling Conundrum.
- Published in:
- Clinical Pharmacology & Therapeutics, 2023, v. 114, n. 2, p. 262, doi. 10.1002/cpt.2910
- By:
- Publication type:
- Article
Localization of BRCA1 protein in breast cancer tissue and cell lines with mutations.
- Published in:
- Cancer Cell International, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1475-2867-13-70
- By:
- Publication type:
- Article
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
- Published in:
- Human Mutation, 2010, v. 31, n. 11, p. 1240, doi. 10.1002/humu.21327
- By:
- Publication type:
- Article
Cover.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1169
- By:
- Publication type:
- Article
Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1053
- By:
- Publication type:
- Article
Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi‐Ethnic Allele and Copy Number Variant Detection.
- Published in:
- CTS: Clinical & Translational Science, 2021, v. 14, n. 1, p. 204, doi. 10.1111/cts.12844
- By:
- Publication type:
- Article