Cancer genetics and therapeutics

220 - Lynch Syndrome Families with Breast Cancer: Majority of Observed Mutations Are in MSH6 and PMS2

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218 - Atypical Presentation of Neurofibromatosis and Melanoma Associated with CDKN2A Gene Deletion  

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225 - Delivering Care to the Individuals with Genetic Predisposition to Cancer –  A 20 Month-Experience in GeneHome
231 - “Seeing Stars”: Treatment of Profound Biotinidase Deficiency Identified via Whole Exome Sequencing Restores Vision Loss in 49-Year-Old Male
237 - Low Level Mosaicism in Turner Syndrome: Implications for Surveillance and Management
239 - CHAMPIONS: A Phase 1/2 Clinical Trial for Treatment of MPS II (Hunter Syndrome) with SB-913 ZFN-Mediated In Vivo Human Genome-Editing
240 - Early Diagnosis and Speed to Effect in Spinal Muscular Atrophy Type 1 (SMA1)
249 - Cascade Testing of Personalized Diabetes Medicine Program (PDMP) Probands is Efficient in Diagnosing At-Risk Individuals of Monogenic Diabetes
250 - A Natural History Study of Generalized Arterial Calcification of Infancy (GACI) and Hyophosphatemic Rickets due to ENPP1 or ABCC6 Deficiency
251 - Limitations of Whole Exome Sequencing in Detecting Rare and Undiagnosed Diseases
252 - Lentiviral hematopoietic stem cell gene therapy (HSC-GT) for metachromatic leukodystrophy (MLD) provides sustained clinical benefit
254 - Pre-authorization for Whole Exome Sequencing: One Center’s Experience