Found: 16
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Transcriptional response of Escherichia coli to ammonia and glucose fluctuations.
- Published in:
- Microbial Biotechnology, 2017, v. 10, n. 4, p. 858, doi. 10.1111/1751-7915.12713
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- Article
Characterization of neurite outgrowth and ectopic synaptogenesis in response to photoreceptor dysfunction.
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- Cellular & Molecular Life Sciences, 2013, v. 70, n. 10, p. 1831, doi. 10.1007/s00018-012-1230-z
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- Article
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2271, doi. 10.3390/ijms23042271
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- Article
Clinical Phenotype of PDE6B -Associated Retinitis Pigmentosa.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2374, doi. 10.3390/ijms22052374
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- Article
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2089, doi. 10.3390/ijms22042089
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- Article
Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 218, doi. 10.1002/mdc3.13398
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- Article
Novel HIVEP2 Variants in Patients with Intellectual Disability.
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- Molecular Syndromology, 2019, v. 10, n. 4, p. 195, doi. 10.1159/000499060
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- Article
Specific and Novel microRNAs Are Regulated as Response to Fungal Infection in Human Dendritic Cells.
- Published in:
- Frontiers in Microbiology, 2017, v. 8, p. 1, doi. 10.3389/fmicb.2017.00270
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- Article
An early onset cone dystrophy due to CEP290 mutation: a case report.
- Published in:
- Documenta Ophthalmologica, 2023, v. 147, n. 3, p. 203, doi. 10.1007/s10633-023-09940-z
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- Article
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 761, doi. 10.1093/hmg/ddab286
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- Article
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.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2680, doi. 10.1002/ajmg.a.61804
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- Article
Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2406, doi. 10.1002/ajmg.a.37178
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- Article
12q24.33 deletion: Report of a patient with intellectual disability and review of the literature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1409, doi. 10.1002/ajmg.a.35877
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- Article
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 860, doi. 10.1002/ajmg.a.35778
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- Article
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2587, doi. 10.1002/ajmg.a.35562
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- Article
Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1709, doi. 10.1002/ajmg.a.35398
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- Article