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Publications by Birgit Lorenz
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
American Journal of Human Genetics
Genetics
Functional Antibodies Targeting IsaA of Staphylococcus Aureus Augment Host Immune Response and Open New Perspectives for Antibacterial Therapy
Antimicrobial Agents and Chemotherapy
Infectious Diseases
Pharmacology
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic C.2991+1655A>G Mutation in CEP290
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Automated Segmentation of Pathological Cavities in Optical Coherence Tomography Scans
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Two Patients With the Heterozygous R189H Mutation in ACTA2 and Complex Congenital Heart Defects Expands the Cardiac Phenotype of Multisystemic Smooth Muscle Dysfunction Syndrome
American Journal of Medical Genetics, Part A
Genetics
Disease-Causing 7.4 Kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction With the FOXL2 Promotor: Implications for Mutation Screening
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Wide-Field Digital Imaging Based Telemedicine for Screening for Acute Retinopathy of Prematurity (ROP). Six-Year Results of a Multicentre Field Study
Graefe's Archive for Clinical and Experimental Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular