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Publications by Johannes Fleischhauer
Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations
PLoS ONE
Multidisciplinary
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Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing
Investigative Ophthalmology and Visual Science
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Identification of Novel EXT Mutations in Patients With Hereditary Multiple Exostoses Using Whole-Exome Sequencing
Orthopaedic surgery
Surgery
Orthopedics
Sports Medicine
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting
American Journal of Ophthalmology
Ophthalmology
Identification of a Mutation Causing Hypertrophic Cardiomyopathy Using Whole Exome Sequencing: A Proof-Of-Concept
Journal of Cardiology
Cardiovascular Medicine
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125: Whole Exome Sequencing (WES) in Prenatal Diagnosis for Carefully Selected Cases
American Journal of Obstetrics and Gynecology
Gynecology
Obstetrics
Whole-Exome Sequencing in the Investigation of Retinal Dystrophy
The Lancet
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Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases
Genomics and Informatics
Evolution
Ecology
Genetics
Systematics
Health Informatics
Behavior
Identification of CDH23 Mutations in Korean Families With Hearing Loss by Whole-Exome Sequencing
BMC Medical Genetics
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Whole-Exome Sequencing Identifies Somatic ATRX Mutations in Pheochromocytomas and Paragangliomas
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics