29 results on '"Schäferhoff, Karin"'
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2. Switching between nitrogen and glucose limitation: Unraveling transcriptional dynamics in Escherichia coli
3. An Atypical Mild Phenotype of Autosomal Recessive RPE65 -Associated Retinitis Pigmentosa.
4. Engineering E. coli for large-scale production – Strategies considering ATP expenses and transcriptional responses
5. Structural and Functional Phenotyping in the Cone-Specific Photoreceptor Function Loss 1 (cpfl1) Mouse Mutant – A Model of Cone Dystrophies
6. A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies
7. A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability
8. Biallelic loss‐of‐function NDUFA12 variants cause a wide phenotypic spectrum from Leigh/Leigh‐like syndrome to isolated optic atrophy
9. Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies
10. Characterization of neurite outgrowth and ectopic synaptogenesis in response to photoreceptor dysfunction
11. Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms
12. Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa
13. 12q24.33 deletion: Report of a patient with intellectual disability and review of the literature
14. Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability
15. Interstitial 3p25.3–p26.1 Deletion in a Patient With Intellectual Disability
16. Interstitial 9q34.11–q34.13 Deletion in a Patient With Severe Intellectual Disability, Hydrocephalus, and Cleft Lip/Palate
17. Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant
18. Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature
19. Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.
20. Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy.
21. Novel HIVEP2 Variants in Patients with Intellectual Disability
22. Specific and Novel microRNAs Are Regulated as Response to Fungal Infection in Human Dendritic Cells
23. Uniparental disomy of chromosome 16 unmasks recessive mutations ofFA2H/SPG35 in 4 families
24. Novel HIVEP2Variants in Patients with Intellectual Disability
25. Transcriptional response of Escherichia coli to ammonia and glucose fluctuations.
26. Xq22.3-q23 deletion includingACSL4in a patient with intellectual disability
27. Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
28. Characterization of neurite outgrowth and ectopic synaptogenesis in response to photoreceptor dysfunction
29. Gene Expression Profiling of the Retina after Transcorneal Electrical Stimulation in Wild-type Brown Norway Rats
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