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