Physician
Medical Genetics
Dr. Berkley R. Powell, MD
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Berkley Powell works in the field of Medical Genetics. He attended Virginia Commonwealth University School of Medicine. Berkley R. Powell, MD is a published doctor and has 9 publications published. The lastest was: 'The genetic basis of DOORS syndrome: an exome-sequencing study.'
Publications
- The genetic basis of DOORS syndrome: an exome-sequencing study.
- Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
- Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
- Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.
- Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
- Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.
- Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
- Clinical diagnoses that overlap with choroideremia.
Schools
Virginia Commonwealth University Medical College Of Virginia School Of Medicine
Or Health Science University Hospital
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Oregon Health & Science University -
Virginia Commonwealth University School of Medicine
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