Dr. Michael Friez practices Genetic Medicine in Greenwood, SC. As a geneticist, Dr. Friez performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients? with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Friez carries out studies, tests, and counsels patients with genetic diseases.
- Formyltetrahydrofolate synthetase sequences from salt marsh plant roots reveal a diversity of acetogenic bacteria and other bacterial functional groups.
- A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
- Ovarian transplantation between monozygotic twins discordant for premature
- Expanding the phenotypic spectrum of L1CAM-associated disease.
- A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
- Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.
- Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.
- First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
- Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
- Expression of nifH genes by diazotrophic bacteria in the rhizosphere of short
- Partial ATRX gene duplication causes ATR-X syndrome.
- Molecular analysis of Fragile X syndrome.
- Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome.
- Gene symbol: ARX. Disease: Mental retardation.
- Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1.
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