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George H. Thomas

Kennedy Krieger Institute
Johns Hopkins University School of Medicine
Johns Hopkins University

131

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5918

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Development of the Reflux Finding Score for Infants and Its Observer Agreement

2014 The Journal of Pediatrics
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Open letter to Ulf Wiinberg, Chief Executive of Lundbeck Pharmaceuticals.

2011 The Lancet
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Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

2011 Genome Research
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Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

2010 PLOS Genetics
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Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

2009 The Journal of Pediatrics
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Mucolipidosis III (pseudo‐Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells

2008 Clinical Genetics
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Cytogenetic characterization of natural killer cell leukemia

2008 Cancer Genetics and Cytogenetics
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Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease.

2008 Clinical Genetics
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Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.

2008 Clinical Genetics
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Neuraminidase deficiency in the original patient with the Goldberg syndrome.

2008 Clinical Genetics
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Citations (22)