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Thelma T Lindauer
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20 Presentations
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Public Presentations
Comprehensive Testing for
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Leopard Syndrome
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CARDIAC DISEASES
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A mouse model for Costello syndrome reveals an Ang II–mediated hypertensive condition
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NOONAN SYNDROMEAND RASOPATHIESPANEL:
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Lab Dept: Anatomic Pathology Test Name: EXPANDED RASOPATHY PANEL (14 GENES)
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Constitutive activation of B-Raf in the mousegerm line provides a model for humancardio-facio-cutaneous syndrome
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Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment
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2006 Molecular Genetics Service Profile Costello Syndrome
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Parental gonadal mosaicism for a BRAF mutation in Cardiofaciocutaneous syndrome
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The cardiofaciocutaneous (CFC) syndrome
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Test Information Sheet
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Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework
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Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors
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Clinical and Molecular Characteristics of Cardio-facio-cutaneous Syndrome in Hong Kong Chinese
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CHAPTER 4 – CARDIOVASCULAR SYSTEM
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