30 results on '"Schorderet Daniel F"'
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2. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
3. Franceschetti Hereditary Recurrent Corneal Erosion
4. A New Locus for Congenital Cataract, Microcornea, Microphthalmia, and Atypical Iris Coloboma Maps to Chromosome 2
5. A Corneal Dystrophy Associated with Transforming Growth Factor β–Induced Gly623Asp Mutation: An Amyloidogenic Phenotype
6. Mutations in CABP4, the Gene Encoding the Ca 2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness
7. Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy
8. Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2
9. Calcium- and Proteasome-dependent Degradation of the JNK Scaffold Protein Islet-brain 1
10. Genomic Characterization and Embryonic Expression of the Mouse Bigh3 (Tgfbi) Gene
11. IB1 Reduces Cytokine-induced Apoptosis of Insulin-secreting Cells
12. Amyloid and Non-amyloid Forms of 5q31-linked Corneal Dystrophy Resulting from Kerato-epithelin Mutations at Arg-124 Are Associated with Abnormal Turnover of the Protein
13. cDNA Cloning and Mapping of a Novel Islet-Brain/JNK-Interacting Protein
14. Genomic Organization, Fine-Mapping, and Expression of the HumanIslet-Brain 1 (IB1)/C-Jun-Amino-Terminal Kinase Interacting Protein-1 (JIP-1)Gene
15. The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer
16. Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
17. Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome
18. Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease
19. TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
20. Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta
21. Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome
22. Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
23. A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22
24. Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35
25. Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis
26. Conjunctivitis as a Sign of PFAPA Syndrome
27. The Human TAX1 Gene Encoding the Axon-Associated Cell Adhesion Molecule TAG-1/Axonin-1: Genomic Structure and Basic Promoter
28. Cloning and Characterization of Helicobacter pyloriSuccinyl CoA:Acetoacetate CoA-transferase, a Novel Prokaryotic Member of the CoA-transferase Family
29. Evidence of Somatic and Germinal Mosaicism in Pseudo–Low-Penetrant Hereditary Retinoblastoma, by Constitutional and Single-Sperm Mutation Analysis
30. Gene Localization for Aculeiform Cataract, on Chromosome 2q33-35
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