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GABRIELE RICHARD, M.D.
M.D.
Ph.D. Medical Genetics
NPI: 1639157886Individual
Specialties, Licenses & Credentials
Ph.D. Medical GeneticsPrimary
Medical Genetics, Ph.D. Medical Genetics
Code: 170100000X
99126
Research & Publications (20)
[Scanpath of experienced and inexperienced drivers in motor sports].
PMID 19588157·Ophthalmologe·2010
4-observational
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43).
PMID 18425059·Eye (Lond)·2009
5-case
PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.
PMID 18759865·Clin Genet·2009
8-other
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
PMID 19562689·Hum Mutat·2009
8-other
[Oxidative stress at the retinal pigment epithelium - experimental implications for protection].
PMID 19173160·Klin Monbl Augenheilkd·2009
6-review
[Optical coherence tomography for macula diagnostics. Review of methods and standardized application concentrating on diagnostic and therapy control of age-related macula degeneration].
PMID 19156426·Ophthalmologe·2009
6-review
Neuronal activity influences hemodynamics in the paraoptic short posterior ciliary arteries: a comparison between healthy and glaucomatous subjects.
PMID 19578013·Invest Ophthalmol Vis Sci·2009
4-observational
[Deficits in reading acquisition in primary school: cognitive, social and behavioral factors studied in a sample of 1062 children].
PMID 19398285·Rev Epidemiol Sante Publique·2009
4-observational
SRS2 and SGS1 prevent chromosomal breaks and stabilize triplet repeats by restraining recombination.
PMID 19136956·Nat Struct Mol Biol·2009
8-other
The Arabidopsis DNA mismatch repair gene PMS1 restricts somatic recombination between homeologous sequences.
PMID 19115045·Plant Mol Biol·2009
8-other
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.
PMID 18976705·Biochim Biophys Acta·2009
8-other
[Clinical relevance of a new digital integration method (DIM) for the precise integration of OCT and fluorescein angiography (FLA)].
PMID 19206041·Klin Monbl Augenheilkd·2009
8-other
Poor reading in French elementary school: the interplay of cognitive, behavioral, and socioeconomic factors.
PMID 19412126·J Dev Behav Pediatr·2009
8-other
An in vivo confocal microscopic analysis of Salzmann's nodular degeneration: pre- and post-surgical intervention.
PMID 19292857·Acta Ophthalmol·2009
5-case
Neurofibromatosis 2 leads to higher incidence of strabismological and neuro-ophthalmological disorders.
PMID 18976311·Acta Ophthalmol·2008
8-other
Correlation of nonsense and frameshift mutations with severity of retinal abnormalities in neurofibromatosis 2.
PMID 18852415·Arch Ophthalmol·2008
8-other
Megasatellites: a peculiar class of giant minisatellites in genes involved in cell adhesion and pathogenicity in Candida glabrata.
PMID 18812401·Nucleic Acids Res·2008
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 207 PERRY PKWY
GAITHERSBURG, MD 20877 - Phone
- (301) 519-2100
Quick Facts
- NPI
- 1639157886
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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