Am J Med Genet A
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Publication Venue For
- Polysomnographic findings in infantile Pompe disease.. 161A:3196-3200. 2013
- Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.. 161A:2431-2443. 2013
- Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome.. 161A:1096-1100. 2013
- Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus.. 161A:605-610. 2013
- Response to the letter "How to describe the clinical spectrum in Pompe disease?".. 161A:401-402. 2013
- Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.. 155A:2186-2195. 2011
- Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.. 152A:333-339. 2010
- Prenatal diagnosis of Down syndrome: how best to deliver the news.. 149A:2361-2367. 2009
- Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl.. 149A:1249-1252. 2009
- When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families.. 149A:1190-1199. 2009
- Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.. 146A:2794-2798. 2008
- De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).. 146A:1986-1993. 2008