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KIM KEPPLER-NOREUIL, MD
MD
Endocrinology, Diabetes & Metabolism Physician
NPI: 1629063334IndividualAccepts Medicare
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) Physician
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
MD046695(DC)0101265711(VA)D86392(MD)
Endocrinology, Diabetes & Metabolism PhysicianPrimary
Internal Medicine — Endocrinology, Diabetes & Metabolism
Code: 207RE0101X
74004-20(WI)
CMS Specialties
PrimaryPEDIATRIC MEDICINE
Education
SOUTHERN ILLINOIS UNIVERSITY SCHOOL OF MEDICINE
Class of 1989
Research & Publications (16)
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
PMID 19052029·J Med Genet·2009
8-other
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
PMID 18297069·Nat Genet·2008
5-case
Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases.
PMID 17935251·Am J Med Genet A·2007
5-case
Prenatal ascertainment of OEIS complex/cloacal exstrophy - 15 new cases and literature review.
PMID 17702047·Am J Med Genet A·2007
6-review
Clinical features and management issues in Mowat-Wilson syndrome.
PMID 17103451·Am J Med Genet A·2006
8-other
Behavioral management of a long-term survivor with tetrasomy 18p.
PMID 16411237·Am J Med Genet A·2006
5-case
In vitro fertilization is associated with an increase in major birth defects.
PMID 16275219·Fertil Steril·2005
4-observational
Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
PMID 16001439·Am J Med Genet A·2005
5-case
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
PMID 15690370·Am J Med Genet A·2005
8-other
Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.
PMID 12920074·J Med Genet·2003
4-observational
Guidelines for case classification for the National Birth Defects Prevention Study.
PMID 12797461·Birth Defects Res A Clin Mol Teratol·2003
6-review
Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.
PMID 11811653·Dev Med Child Neurol·2002
5-case
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
PMID 11719191·Cell·2001
7-preclinical
OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): a review of 14 cases.
PMID 11251992·Am J Med Genet·2001
8-other
Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16.
PMID 11221902·Dev Med Child Neurol·2001
5-case
Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.
PMID 10779849·Ophthalmic Genet·2000
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 1500 HIGHLAND AVE
MADISON, WI 53705 - Phone
- (608) 263-3301
Quick Facts
- NPI
- 1629063334
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Accepted
- Specialties
- 4
- Locations
- 1
- Years in Practice
- 37
- Publications
- 16
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