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The Neurobiology of Modern Viral Scourges: ZIKV and COVID-19.
- Published in:
- Neuroscientist, 2022, v. 28, n. 5, p. 438, doi. 10.1177/10738584211009149
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- Publication type:
- Article
Virmid: accurate detection of somatic mutations with sample impurity inference.
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- Genome Biology, 2013, v. 14, n. 8, p. R90, doi. 10.1186/gb-2013-14-8-r90
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- Publication type:
- Article
Simultaneous multiple-excitation multiphoton microscopy yields increased imaging sensitivity and specificity.
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- BMC Biotechnology, 2011, v. 11, n. 1, p. 20, doi. 10.1186/1472-6750-11-20
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- Article
Genetic regulation of human brain development: lessons from Mendelian diseases.
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- Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 156, doi. 10.1111/j.1749-6632.2010.05819.x
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- Article
Cytosine-5 RNA methylation links protein synthesis to cell metabolism.
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- PLoS Biology, 2019, v. 17, n. 6, p. 1, doi. 10.1371/journal.pbio.3000297
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- Publication type:
- Article
Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.
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- Journal of Cell Biology, 2004, v. 165, n. 5, p. 709, doi. 10.1083/jcb.200309025
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- Publication type:
- Article
Association of common variants in the Joubert syndrome gene (AHI1) with autism.
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- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3887, doi. 10.1093/hmg/ddn291
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- Publication type:
- Article
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3796, doi. 10.1093/hmg/ddn277
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- Publication type:
- Article
Stems cells and regeneration: Special Review Issue.
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- Human Molecular Genetics, 2008, v. 17, n. R1, p. R1, doi. 10.1093/hmg/ddn186
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- Article
Genetic basis of Joubert syndrome and related disorders of cerebellar development.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 2, p. r235, doi. 10.1093/hmg/ddi264
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- Publication type:
- Article
Genetic basis of Joubert syndrome and related disorders of cerebellar development.
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- Human Molecular Genetics, 2005, v. 14, n. suppl_2, p. R235, doi. 10.1093/hmg/ddi264
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- Publication type:
- Article
The Doublecortin and Doublecortin-Like Kinase 1 Genes Cooperate in Murine Hippocampal Development.
- Published in:
- Cerebral Cortex, 2006, v. 16, n. suppl_1, p. i69, doi. 10.1093/cercor/bhk005
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- Publication type:
- Article
The Doublecortin and Doublecortin-Like Kinase 1 Genes Cooperate in Murine Hippocampal Development.
- Published in:
- Cerebral Cortex, 2006, v. 16, n. 1, p. i69, doi. 10.1093/cercor/bhk005
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- Publication type:
- Article
Selective Expression of Doublecortin and LIS1 in Developing Human Cortex Suggests Unique Modes of Neuronal Movement.
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- Cerebral Cortex, 2002, v. 12, n. 12, p. 1225, doi. 10.1093/cercor/12.12.1225
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- Publication type:
- Article
Doublecortin-like kinase enhances dendritic remodelling and negatively regulates synapse maturation.
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- Nature Communications, 2013, v. 4, n. 2, p. 1440, doi. 10.1038/ncomms2443
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- Publication type:
- Article
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1482, doi. 10.1038/ejhg.2015.29
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- Article
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4547, doi. 10.1093/brain/awad235
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- Article
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
- Published in:
- 2022
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- Publication type:
- journal article
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
- Published in:
- 2019
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- Publication type:
- journal article
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
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- 2016
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- Publication type:
- journal article
Functional genomic screen for modulators of ciliogenesis and cilium length.
- Published in:
- Nature, 2010, v. 464, n. 7291, p. 1048, doi. 10.1038/nature08895
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- Publication type:
- Article
Early ophthalmic findings in joubert syndrome.
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- Journal of the Egyptian Ophthalmological Society, 2017, v. 110, n. 4, p. 127, doi. 10.4103/ejos.ejos_46_17
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- Publication type:
- Article
DCLK1 phosphorylates the microtubule-associated protein MAP7D1 to promote axon elongation in cortical neurons.
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- Developmental Neurobiology (19328451), 2017, v. 77, n. 4, p. 493, doi. 10.1002/dneu.22428
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- Publication type:
- Article
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 809, doi. 10.1038/ng.3311
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- Publication type:
- Article
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
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- Nature Genetics, 2012, v. 44, n. 8, p. 941, doi. 10.1038/ng.2329
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- Publication type:
- Article
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 6, p. 623, doi. 10.1038/ng1805
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- Publication type:
- Article
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 510, doi. 10.1111/cge.14481
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- Publication type:
- Article
Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 238, doi. 10.1111/cge.14338
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- Publication type:
- Article
Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations.
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- Clinical Genetics, 2019, v. 95, n. 4, p. 537, doi. 10.1111/cge.13492
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- Publication type:
- Article
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
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- Turkish Journal of Pediatrics, 2015, v. 57, n. 3, p. 286
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- Article
Joubert syndrome: report of 11 cases.
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- Turkish Journal of Pediatrics, 2012, v. 54, n. 6, p. 605
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- Publication type:
- Article
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
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- Neurological Sciences, 2021, v. 42, n. 7, p. 2737, doi. 10.1007/s10072-020-04843-2
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- Article
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17454-4
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- Publication type:
- Article
PAK3 mutation in nonsyndromic X-linked mental retardation.
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- Nature Genetics, 1998, v. 20, n. 1, p. 25, doi. 10.1038/1675
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- Publication type:
- Article
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
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- PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008088
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- Publication type:
- Article
Subcellular spatial regulation of canonical Wnt signalling at the primary cilium.
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- Nature Cell Biology, 2011, v. 13, n. 6, p. 702, doi. 10.1038/ncb2259
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- Publication type:
- Article
Aurora A moonlights in neurite extension.
- Published in:
- Nature Cell Biology, 2009, v. 11, n. 9, p. 1053, doi. 10.1038/ncb0909-1053
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- Publication type:
- Article
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-0714-1
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- Publication type:
- Article
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00277-7
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- Publication type:
- Article
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.
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- Scientific Data, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41597-023-02645-7
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- Article
Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.78459
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- Article
NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 16, p. 8720, doi. 10.1093/nar/gkz559
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- Article
Mapping recurrent mosaic copy number variation in human neurons.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-48392-0
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- Publication type:
- Article
Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3042, doi. 10.1002/ajmg.a.34173
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- Article
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3035, doi. 10.1002/ajmg.a.34078
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- Publication type:
- Article
Multiple Dose-Dependent Effects of Lis1 on Cerebral Cortical Development.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 5, p. 1719, doi. 10.1523/JNEUROSCI.23-05-01719.2003
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- Publication type:
- Article
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 80, doi. 10.1186/1471-2350-13-80
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- Publication type:
- Article
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17069-9
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- Publication type:
- Article
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
- Published in:
- 2012
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- Publication type:
- journal article