As a medical geneticist, Nancy Mendelsohn, M.D., provides diagnostic, genetic counseling and case-management services at Gillette Children's Specialty Healthcare for patients who have hereditary condi ...
- Unique case of trisomy 2p24.3-pter with no associated monosomy.
- Validity of hospital discharge data for identifying infants with cardiac defects.
- Genetics evaluation for the etiologic diagnosis of autism spectrum disorders.
- Clinical genetics evaluation in identifying the etiology of autism spectrum disorders.
- Genotype differences in cognitive functioning in Noonan syndrome.
- Chondrodysplasia punctata associated with malabsorption from bariatric procedures.
- The language phenotype of children and adolescents with Noonan syndrome.
- The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.
- Expert recommendations for the laboratory diagnosis of MPS VI.
- Response to the letter "How to describe the clinical spectrum in Pompe disease?".
- Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
- The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).
- Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series.
- Overcoming the barriers to diagnosis of Morquio A syndrome.
- The Long and Short of Genetic Counseling Summary Letters: A Case-control Study.
- Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
- Erratum to: The Long and Short of Genetic Counseling Letters: A Case-control Study.
- The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).
- Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.
- Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
- Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment.
- A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.
- Expression and characterization of human mutant (glutamic acid304) medium-chain acyl-coenzyme A dehydrogenase in mammalian cells.
- 2012Mpls.St.Paul Super Doctors
- St. Louis Children's Hospital
- Medical Genetics - St Louis Children's Hospital, St Louis
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