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Publications by Eberhard Schwinger
Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, With Homoallelism for Mutations in RPE65 or MERTK, Respectively
American Journal of Human Genetics
Genetics
Different Types of Repeat Expansion in the TATA-binding Protein Gene Are Associated With a New Form of Inherited Ataxia
European Journal of Human Genetics
Genetics
Related publications
Paternal Uniparental Disomy of Chromosome 1
Paternal Uniparental Isodisomy of Chromosome 11p15.5 Within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia
Frontiers in Endocrinology
Endocrinology
Metabolism
Diabetes
Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q
Journal of Bone and Mineral Research
Endocrinology
Orthopedics
Sports Medicine
Metabolism
Diabetes
Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome
American Journal of Human Genetics
Genetics
MERTK Mutations Update in Inherited Retinal Diseases
Human Mutation
Genetics
Mutations in theUBIAD1Gene on Chromosome Short Arm 1, Region 36, Cause Schnyder Crystalline Corneal Dystrophy
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Trisomy: Chromosome Competition or Maternal Strategy?
Ethology and Sociobiology
Paternal Uniparental Disomy of Chromosome 13
Paternal Uniparental Disomy of Chromosome 21
