Am J Med Genet C Semin Med Genet
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Publication Venue For
- Implementing family health history risk stratification in primary care: impact of guideline criteria on populations and resource demand.. 166C:24-33. 2014
- Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome.. 160C:295-300. 2012
- Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.. 160C:50-58. 2012
- Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up.. 160C:22-29. 2012
- Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.. 160C:69-79. 2012
- Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.. 160C:40-49. 2012
- The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.. 160C:1-7. 2012
- Non-genetic risk factors for holoprosencephaly.. 154C:73-85. 2010
- Roles of bone morphogenetic protein signaling and its antagonism in holoprosencephaly.. 154C:43-51. 2010
- Living with genetic risk: effect on adolescent self-concept.. 148C:56-69. 2008