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RICHARD PAULI, MD PHD
MD PHD
Clinical Genetics (M.D.) Physician
NPI: 1851368013Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
23489(WI)
Research & Publications (20)
The natural histories of bone dysplasias in adults--vignettes, fables and just-so stories.
PMID 17639591·Am J Med Genet C Semin Med Genet·2007
5-case
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
PMID 19085907·Hum Mutat·2009
8-other
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
PMID 18925670·Am J Med Genet A·2008
5-case
Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care.
PMID 18546283·Am J Med Genet A·2008
5-case
A missense T (Brachyury) mutation contributes to vertebral malformations.
PMID 18466071·J Bone Miner Res·2008
8-other
Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.
PMID 17888180·Scoliosis·2007
8-other
A cold-response index for the assessment of Raynaud's phenomenon.
PMID 17169532·J Dermatol Sci·2007
2-rct
Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes.
PMID 16835927·Am J Med Genet A·2006
5-case
An analysis of PAX1 in the development of vertebral malformations.
PMID 16207213·Clin Genet·2005
8-other
Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.
PMID 15368497·Am J Med Genet A·2004
5-case
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
PMID 15146390·Am J Hum Genet·2004
8-other
Double heterozygosity in bone growth disorders: four new observations and review.
PMID 12923858·Am J Med Genet A·2003
5-case
Natural history of rhizomelic chondrodysplasia punctata.
PMID 12687664·Am J Med Genet A·2003
4-observational
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 202 N YELLOWSTONE DR
MADISON, WI 53705 - Phone
- (608) 833-3663
Quick Facts
- NPI
- 1851368013
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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