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JOAN MARINI, M.D., PH.D
M.D., PH.D
Clinical Genetics (M.D.) Physician
NPI: 1609216167Individual
Specialties, Licenses & Credentials
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
D41458(MD)
Research & Publications (20)
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
PMID 17078022·Hum Mutat·2007
6-review
Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.
PMID 17630507·Cell Cycle·2007
6-review
Should children with osteogenesis imperfecta be treated with bisphosphonates?
PMID 16932247·Nat Clin Pract Endocrinol Metab·2006
8-other
Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen.
PMID 12568401·J Bone Miner Res·2003
8-other
Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model.
PMID 19594296·J Bone Miner Res·2010
7-preclinical
In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta.
PMID 19414862·Blood·2009
7-preclinical
Evaluating humidity recovery efficiency of currently available heat and moisture exchangers: a respiratory system model study.
PMID 19578664·Clinics (Sao Paulo)·2009
8-other
Large-scale mRNA analysis of female skeletal muscles during 60 days of bed rest with and without exercise or dietary protein supplementation as countermeasures.
PMID 19470803·Physiol Genomics·2009
2-rct
Bone: Use of bisphosphonates in children-proceed with caution.
PMID 19444252·Nat Rev Endocrinol·2009
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
- 9000 ROCKVILLE PIKE, BLDG. 10; RM 10D39
BETHESDA, MD 20892 - Phone
- (301) 594-3418
Quick Facts
- NPI
- 1609216167
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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