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Introducing Fiber-Assisted Colorimetric Measurements as a Quality Control Tool of Hot Melt Extruded Filaments.
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- Pharmaceutics, 2022, v. 14, n. 5, p. 1055, doi. 10.3390/pharmaceutics14051055
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- Article
Embedding a Sensitive Liquid-Core Waveguide UV Detector into an HPLC-UV System for Simultaneous Quantification of Differently Dosed Active Ingredients during Drug Release.
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- Pharmaceutics, 2022, v. 14, n. 3, p. 639, doi. 10.3390/pharmaceutics14030639
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- Article
Fundamental Investigations into Metoprolol Tartrate Deposition on Orodispersible Films by Inkjet Printing for Individualised Drug Dosing.
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- Pharmaceutics, 2021, v. 13, n. 2, p. 247, doi. 10.3390/pharmaceutics13020247
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- Article
Development of a New Monomer for the Synthesis of Intrinsic Antimicrobial Polymers with Enhanced Material Properties.
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- International Journal of Molecular Sciences, 2015, v. 16, n. 8, p. 20050, doi. 10.3390/ijms160820050
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- Article
Aorto-aortic bypass in an infant with middle aortic syndrome and Marfan syndrome: a 15-year follow-up.
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- Interdisciplinary Cardiovascular & Thoracic Surgery, 2023, v. 36, n. 1, p. 1, doi. 10.1093/icvts/ivad011
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- Article
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
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- Human Genetics, 2024, v. 143, n. 5, p. 683, doi. 10.1007/s00439-024-02669-y
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- Article
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
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- Human Genetics, 2021, v. 140, n. 10, p. 1459, doi. 10.1007/s00439-021-02344-6
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- Article
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.16078
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- Article
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2274, doi. 10.1002/ajmg.a.37798
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- Article
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1080, doi. 10.1002/ajmg.a.37547
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- Article
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 927, doi. 10.1002/ajmg.a.35231
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- Article
Mutations in PYCR1 cause cutis laxa with progeroid features.
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- Nature Genetics, 2009, v. 41, n. 9, p. 1016, doi. 10.1038/ng.413
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- Article
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H<sup>+</sup>-ATPase subunit ATP6V0A2.
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- Nature Genetics, 2008, v. 40, n. 1, p. 32, doi. 10.1038/ng.2007.45
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- Article
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise.
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- Bioinformatics, 2022, v. 38, n. 16, p. 3871, doi. 10.1093/bioinformatics/btac418
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- Article
The Importance of User Involvement: A Systematic Review of Involving Older Users in Technology Design.
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- Gerontologist, 2020, v. 60, n. 7, p. e513, doi. 10.1093/geront/gnz163
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- Article
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
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- Human Genetics, 2012, v. 131, n. 11, p. 1761, doi. 10.1007/s00439-012-1197-8
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- Article
Plasma Electrolytic Oxidation of Titanium in H2SO4–H3PO4 Mixtures.
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- Coatings (2079-6412), 2020, v. 10, n. 2, p. 116, doi. 10.3390/coatings10020116
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- Article
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
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- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 888, doi. 10.1038/ejhg.2013.154
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- Article
Combined Galvanostatic and Potentiostatic Plasma Electrolytic Oxidation of Titanium in Different Concentrations of H2SO4.
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- Metals (2075-4701), 2018, v. 8, n. 6, p. 386, doi. 10.3390/met8060386
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- Article
Bessere Vereinbarkeit von Beruf und Pflege kann Zielkonflikt zwischen Renten- und Pflegepolitik lösen.
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- Deutsches Institut für Wirtschaftsforschung: DIW-Wochenbericht, 2020, n. 46, p. 854, doi. 10.18723/diw_wb:2020-46-1
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- Article
Reform des Ehegattensplittings: Realsplitting mit niedrigem Übertragungsbetrag ist ein guter Kompromiss.
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- Deutsches Institut für Wirtschaftsforschung: DIW-Wochenbericht, 2020, n. 41, p. 786, doi. 10.18723/diw_wb:2020-41-1
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- Article
Time to Care? The Effects of Retirement on Informal Care Provision.
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- Deutsches Institut für Wirtschaftsforschung: DIW-Wochenbericht, 2019, v. 2019, n. 44, p. 839
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- Article
Das Rentenniveau spielt eine wesentliche Rolle für das Armutsrisiko im Alter.
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- Deutsches Institut für Wirtschaftsforschung: DIW-Wochenbericht, 2019, v. 2019, n. 21/22, p. 376, doi. 10.18723/diw_wb:2019-21-22-1
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- Article
Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2.
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- Interactive Cardiovascular & Thoracic Surgery, 2022, v. 35, n. 1, p. 1, doi. 10.1093/icvts/ivac159
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- Article
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
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- Journal of Investigative Dermatology, 2015, v. 135, n. 10, p. 2368, doi. 10.1038/jid.2015.192
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- Article
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 972, doi. 10.1002/jimd.12341
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- Article
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3119, doi. 10.1093/hmg/ddv063
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- Article
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
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- Science Translational Medicine, 2014, v. 6, n. 252, p. 1, doi. 10.1126/scitranslmed.3009262
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- Article
Doing User Involvement: Shifting Interstices and Coalescing Tensions in Care Technology.
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- Science, Technology & Human Values, 2024, v. 49, n. 5, p. 1130, doi. 10.1177/01622439221143196
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- Article
AutozygosityMapper: Identification of disease-mutations in consanguineous families.
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- Nucleic Acids Research, 2022, v. 50, n. W1, p. W83, doi. 10.1093/nar/gkac280
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- Article
VarFish: comprehensive DNA variant analysis for diagnostics and research.
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- Nucleic Acids Research, 2020, v. 48, n. W1, p. W162, doi. 10.1093/nar/gkaa241
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- Article
MutationDistiller: user-driven identification of pathogenic DNA variants.
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- Nucleic Acids Research, 2019, v. 47, n. W1, p. W114, doi. 10.1093/nar/gkz330
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- Article
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS).
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1848, doi. 10.1002/ajmg.a.34057
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- Article
Co-Design as Learning: The Differences of Learning When Involving Older People in Digitalization in Four Countries.
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- Societies (2075-4698), 2021, v. 11, n. 2, p. 66, doi. 10.3390/soc11020066
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- Article
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
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- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2149, doi. 10.1093/hmg/ddp148
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- Article
Radiofluorination of an Anionic, Azide-Functionalized Teroligomer by Copper-Catalyzed Azide-Alkyne Cycloaddition.
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- Nanomaterials (2079-4991), 2023, v. 13, n. 14, p. 2095, doi. 10.3390/nano13142095
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- Article
ON THE SYSTEM SIZE OF LATTICE BOLTZMANN SIMULATIONS.
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- International Journal of Modern Physics C: Computational Physics & Physical Computation, 2004, v. 15, n. 8, p. 1049, doi. 10.1142/S0129183104006492
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- Article
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.
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- Indian Journal of Medical Research, 2010, v. 131, n. 4, p. 508
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- Article