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ROBERT J HOPKIN M.D.
M.D.
Clinical Genetics (M.D.) Physician
NPI: 1447281878IndividualAccepts Medicare
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
35.066579(OH)
Education
UNIVERSITY OF NEVADA SCHOOL OF MEDICINE
Class of 1990
Research & Publications (20)
Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.
PMID 18596579·Pediatr Res·2008
8-other
Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome.
PMID 10931419·J Pediatr·2000
8-other
Phenotypic and microscopic description of a new case of Ermine phenotype.
PMID 19449401·Am J Med Genet A·2009
5-case
Characterization of congenital anomalies in individuals with choanal atresia.
PMID 19528400·Arch Otolaryngol Head Neck Surg·2009
8-other
Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome.
PMID 19533777·Am J Med Genet A·2009
5-case
Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol.
PMID 19610116·Am J Med Genet A·2009
8-other
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.
PMID 18027081·J Autism Dev Disord·2008
8-other
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
PMID 18037317·Mol Genet Metab·2008
8-other
A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.
PMID 17219392·Am J Med Genet A·2007
5-case
Enzyme reconstitution/replacement therapy for lysosomal storage diseases.
PMID 18025928·Curr Opin Pediatr·2007
6-review
Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status.
PMID 17304051·Genet Med·2007
8-other
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
PMID 17151339·Neurology·2007
4-observational
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
PMID 16980809·Genet Med·2006
6-review
Non-lethal congenital hypotonia due to glycogen storage disease type IV.
PMID 16528737·Am J Med Genet A·2006
5-case
Contraction and cation contents of skeletal soleus and EDL muscles in age-matched control and diabetic rats.
PMID 17151321·Ann N Y Acad Sci·2006
7-preclinical
Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease.
PMID 16778596·Genet Med·2006
4-observational
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
PMID 16463420·Birth Defects Res A Clin Mol Teratol·2006
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 3333 BURNET AVE., ML 4006
CINCINNATI, OH 45229 - Phone
- (513) 636-4760
Quick Facts
- NPI
- 1447281878
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Accepted
- Specialties
- 1
- Locations
- 1
- Years in Practice
- 36
- Publications
- 20
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