Dr. Richard M Pauli MD PHD
Geneticist | Clinical Genetics (M.D.)1500 Highland Ave Madison WI, 53705
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
Medical GeneticsAmerican Board of Medical GeneticsABMG
- 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.
- University of Washington Program
Dr. Richard M Pauli MD PHD's Practice location
Madison, WI 53705Get Direction
MADISON, WI 53705Get Direction
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Patient Experience with Dr. Pauli
- What Is Pituitary Dwarfism?
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- Different Types of Physicians Explained
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- The History of Muscular Dystrophy
What is muscular dystrophy?Muscular dystrophy is an inherited disorder, which is often characterized by a progressive type of muscular degeneration and weakness. There are several types of muscular dystrophy, wherein each type eventually leads to an increased disability, strength loss, and potential...
- Ehlers-Danlos Syndrome: Symptoms, Causes, Diagnosis, and Treatment
What is Ehlers-Danlos syndrome (EDS)?Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the body’s connective tissues, which are proteins that support the blood vessels, skin, bones, and other organs in the body. Connective tissues also provide elasticity and strength to the...
- The Function and Structure of DNA
Deoxyribonucleic acid or DNA is a molecule that contains the instructions an organism needs to develop, live and reproduce. These instructions are found inside every cell and are passed down from parents to their children.The Structure of DNADNA contains molecules called nucleotides, which possess a...
- The Most Common Misconceptions About Breast Cancer
There is so much information you can read online about breast cancer. Some information may be acquired in the community, friends, or family that is totally misleading or incorrect. Although not backed up with solid evidence, such information can cause a lot of media attention, which can further...
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