W HIT E PA PE R Identify a genetic disorder with HGMD® We are entering a new era of genetic counseling and medical care. Next Generation Sequencing (“NGS”) technology provides the ability to establish a causal - Exome - Document - PDFSEARCH.IO

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	W HIT E PA PE R Identify a genetic disorder with HGMD® We are entering a new era of genetic counseling and medical care. Next Generation Sequencing (“NGS”) technology provides the ability to establish a causal Add to Reading List Document Date: 2012-08-14 11:18:49 Open Document File Size: 390,55 KB Share Result on Facebook Company BIOBASE GmBH / / Currency IDR / / / MedicalCondition autosomal recessive cystic kidney diseases / inherited disorder / potential other disease / retinal disease / human inherited disease / muscle disorders / inherited retinal diseases / diseases / disease / disorder / muscular dystrophies / Retinitis pigmentosa / Joubert syndrome / Porphyria cutanea tarda / MeckelGruber syndrome / Senior-Loken syndrome / Cases Retinitis pigmentosa / previously reported disease / genetic disorder / Porphyria / Method Patients Analyzed Molecular Diagnosis Retinitis / autosomal recessive retinal diseases / inherited diseases / Retinitis / novel disease / Spastic paraplegias / disorders / published inherited disease / genetic disorders / / MedicalTreatment counseling / / Technology NGS technologies / genotype / human genome / / URL www.biobase-international.com / / SocialTag Molecular biology Genomics Channelopathy Ciliopathy Exome sequencing Retinitis pigmentosa Joubert syndrome Nephronophthisis Full genome sequencing Biology

W HIT E PA PE R Identify a genetic disorder with HGMD® We are entering a new era of genetic counseling and medical care. Next Generation Sequencing (“NGS”) technology provides the ability to establish a causalAdd to Reading List