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Development of a HPLC Method for Analysis of a Combination of Clofazimine, Isoniazid, Pyrazinamide, and Rifampicin Incorporated into a Dermal Self-Double-Emulsifying Drug Delivery System.
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- Methods & Protocols, 2023, v. 6, n. 6, p. 104, doi. 10.3390/mps6060104
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- Article
2‐Aroyl quinazolinone: Synthesis and in vitro anti‐parasitic activity.
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- Chemical Biology & Drug Design, 2023, v. 102, n. 4, p. 763, doi. 10.1111/cbdd.14284
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- Article
6‐Nitro‐1‐benzylquinolones exhibiting specific antitubercular activity.
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- Chemical Biology & Drug Design, 2020, v. 96, n. 6, p. 1387, doi. 10.1111/cbdd.13747
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- Article
Tauopathy in the young autistic brain: novel biomarker and therapeutic target.
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- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-00904-4
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- Article
Phytochemistry of the Carnivorous Sundew Genus Drosera (Droseraceae) - Future Perspectives and Ethnopharmacological Relevance.
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- Chemistry & Biodiversity, 2013, v. 10, n. 10, p. 1774, doi. 10.1002/cbdv.201200359
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- Article
Coproduction and Ecological Significance of Naphthoquinones in Carnivorous Sundews ( Drosera).
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- Chemistry & Biodiversity, 2012, v. 9, n. 6, p. 1033, doi. 10.1002/cbdv.201100274
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- Article
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 315, doi. 10.1002/ajmg.c.31413
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- Article
Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 8, p. 1049, doi. 10.1002/ajmg.b.32473
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- Article
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 591, doi. 10.1002/ajmg.a.61463
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- Article
Clinical delineation of the PACS1-related syndrome-Report on 19 patients.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 670, doi. 10.1002/ajmg.a.37476
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- Article
Severe Congenital Neutropenia with Neurological Impairment Due to a Homozygous VPS45 p.E238K Mutation: A Case Report Suggesting a Genotype-Phenotype Correlation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3214, doi. 10.1002/ajmg.a.37367
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- Article
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
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- Nature Genetics, 2006, v. 38, n. 9, p. 999, doi. 10.1038/ng1853
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- Article
Vineland Adaptive Behavior Scale in a Cohort of Four ADNP Syndrome Patients Implicates Age-Dependent Developmental Delays with Increased Impact of Activities of Daily Living.
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- Journal of Molecular Neuroscience, 2022, v. 72, n. 8, p. 1531, doi. 10.1007/s12031-022-02048-0
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- Article
Erratum to: The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey-ADNP Mutation.
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- 2016
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- Publication type:
- Erratum
The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey-ADNP Mutation.
- Published in:
- 2015
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- Publication type:
- Editorial
In vitro and ex vivo experimental models for evaluation of intranasal systemic drug delivery as well as direct nose‐to‐brain drug delivery.
- Published in:
- Biopharmaceutics & Drug Disposition, 2023, v. 44, n. 1, p. 94, doi. 10.1002/bdd.2348
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- Article
Renewable energy from Cyanobacteria: energy production optimization by metabolic pathway engineering.
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- Applied Microbiology & Biotechnology, 2011, v. 91, n. 3, p. 471, doi. 10.1007/s00253-011-3394-0
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- Article
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
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- Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-023-01450-8
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- Article
Gaps in Current Autism Research: The Thoughts of the Autism Research Editorial Board and Associate Editors.
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- Autism Research: Official Journal of the International Society for Autism Research, 2019, v. 12, n. 5, p. 700, doi. 10.1002/aur.2101
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- Article
Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2.
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- Autism Research: Official Journal of the International Society for Autism Research, 2012, v. 5, n. 4, p. 277, doi. 10.1002/aur.1240
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- Publication type:
- Article
Positron Emission Tomography (PET) Quantification of GABA<sub>A</sub> Receptors in the Brain of Fragile X Patients.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131486
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- Article
A Robust Protocol to Increase NimbleGen SeqCap EZ Multiplexing Capacity to 96 Samples.
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- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123872
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- Article
Balanced translocations in mental retardation.
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- Human Genetics, 2009, v. 126, n. 1, p. 133, doi. 10.1007/s00439-009-0661-6
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- Article
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65608-x
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- Article
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 803, doi. 10.1038/ejhg.2014.173
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- Article
Craniofacial characteristics of fragile X syndrome in mouse and man.
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- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 816, doi. 10.1038/ejhg.2012.265
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- Publication type:
- Article
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
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- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 395, doi. 10.1038/sj.ejhg.5201975
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- Publication type:
- Article
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.
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- European Journal of Human Genetics, 2006, v. 14, n. 10, p. 1090, doi. 10.1038/sj.ejhg.5201674
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- Article
Brain studies of mouse models for neurogenetic disorders using in vivo magnetic resonance imaging (MRI).
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- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 153, doi. 10.1038/sj.ejhg.5200606
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- Article
Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 526, doi. 10.1038/sj.ejhg.5200348
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- Article
CNV-WebStore: Online CNV Analysis, Storage and Interpretation.
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- BMC Bioinformatics, 2011, v. 12, n. 1, p. 1, doi. 10.1186/1471-2105-12-4
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- Article
Geographical and seasonal phytochemical variation of Artemisia afra Jacq. ex Willd.
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- Phytochemical Analysis, 2023, v. 34, n. 2, p. 175, doi. 10.1002/pca.3191
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- Article
Comparative quantitative analysis of artemisinin by chromatography and qNMR.
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- Phytochemical Analysis, 2010, v. 21, n. 5, p. 451, doi. 10.1002/pca.1217
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- Article
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case.
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- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01743-w
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- Article
Diagnostic implications of genetic copy number variation in epilepsy plus.
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- Epilepsia (Series 4), 2019, v. 60, n. 4, p. 689, doi. 10.1111/epi.14683
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- Article
Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions.
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- Emerging Topics in Life Sciences, 2023, v. 7, n. 3, p. 265, doi. 10.1042/ETLS20230021
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- Article
Synthesis of the Antimycobacterial Naphthoquinone, 7-Methyljuglone and its Dimer, Neodiospyrin.
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- South African Journal of Chemistry, 2006, v. 59, p. 60
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- Article
GABA neurotransmitter signaling in the developing mouse lens: Dynamic regulation of components and functionality.
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- Developmental Dynamics, 2008, v. 237, n. 12, p. 3830, doi. 10.1002/dvdy.21768
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- Article
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82050-5
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- Article
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
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- Human Molecular Genetics, 2020, v. 29, n. 5, p. 877, doi. 10.1093/hmg/ddz173
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- Article
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
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- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2900, doi. 10.1093/hmg/ddz111
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- Article
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
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- Human Molecular Genetics, 2015, v. 24, n. 4, p. 1106, doi. 10.1093/hmg/ddu523
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- Article
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
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- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2590, doi. 10.1093/hmg/ddt107
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- Article
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
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- Human Molecular Genetics, 2013, v. 22, n. 10, p. 1960, doi. 10.1093/hmg/ddt043
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- Publication type:
- Article
Single-Cell and Neuronal Network Alterations in an In Vitro Model of Fragile X Syndrome.
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- Cerebral Cortex, 2020, v. 30, n. 1, p. 31, doi. 10.1093/cercor/bhz068
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- Article
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
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- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0804-0
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- Publication type:
- Article
Towards Kinase Inhibitor Therapies for Fragile X Syndrome: Tweaking Twists in the Autism Spectrum Kinase Signaling Network.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 8, p. 1325, doi. 10.3390/cells11081325
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- Article
De novo mutations, genetic mosaicism and human disease.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.983668
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- Article
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 343, doi. 10.1002/ajmg.a.33810
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- Article
FRA2A Is a CGG Repeat Expansion Associated with Silencing of <i>AFF3</i>.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004242
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- Publication type:
- Article