Dr. Richard M Pauli MD PHD
Geneticist | Clinical Genetics (M.D.)
1500 Highland Ave Madison WI, 53705Rating
4/5
About
Dr. Richard Pauli practices Genetic Medicine in Madison, WI. As a geneticist, Dr. Pauli performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Pauli carries out studies, tests, and counsels patients with genetic diseases.
Education and Training
Univ of Chicago, Pritzker Sch of Med, Chicago Il 1975
University of Chicago Division of the Biological Sciences The Pritzker School of Medicine 1975
Board Certification
Medical GeneticsAmerican Board of Medical GeneticsABMG
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission.
- Jugular bulb dehiscence in achondroplasia.
- Ventricular noncompaction and distal chromosome 5q deletion.
- Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.
- Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
- Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
- Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.
- Absence of correlation between infantile hypotonia and foramen magnum size in
- Costs and consequences of comprehensive stillbirth assessment.
- Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.
- Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report.
- X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.
- Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling.
- Natural history of rhizomelic chondrodysplasia punctata.
- Double heterozygosity in bone growth disorders: four new observations and review.
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Practice At 1500 Highland Ave
1500 Highland Ave -Madison, WI 53705Get Direction
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Nearby Providers
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Dr. Kim Keppler-noreuil MD1500 HIGHLAND AVE MADISON WI 53705
Nearest Hospitals
UNIVERSITY OF WI HOSPITALS & CLINICS AUTHORITYl
600 HIGHLAND AVENUE MADISON WI 53792UNITYPOINT HEALTH - MERITERl
202 S PARK ST MADISON WI 53715ST MARYS HOSPITALl
700 SOUTH PARK ST MADISON WI 53715