Thomas Jefferson University

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Bober, Michael
One or more keywords matched the following items that are connected to Bober, Michael
Item TypeName
Concept Phenotype
Academic Article Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.
Academic Article Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.
Academic Article Extreme growth failure is a common presentation of ligase IV deficiency.
Academic Article NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS.
Academic Article Defining the clinical phenotype of Saul-Wilson syndrome.
Academic Article Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Academic Article DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Academic Article Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
Academic Article CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus.
Academic Article Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
Academic Article Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
Academic Article Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.
Academic Article The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
Academic Article Mobility in osteogenesis imperfecta: a multicenter North American study.
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