Found: 45
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POLG-related mitochondrial disease mimicking autoimmune encephalitis.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 10, p. 7021, doi. 10.1007/s00415-024-12641-5
- By:
- Publication type:
- Article
Hereditary leukodystrophy with axonal spheroids (HDLS) presenting subacutely: a CNS-vasculitis mimic.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Mowat-Wilson syndrome: growth charts.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 283, doi. 10.1007/s00439-021-02416-7
- By:
- Publication type:
- Article
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
- Published in:
- Epilepsia Open, 2023, v. 8, n. 4, p. 1300, doi. 10.1002/epi4.12799
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- Publication type:
- Article
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
- Published in:
- Genome Medicine, 2018, v. 10, p. 1, doi. 10.1186/s13073-017-0510-5
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- Publication type:
- Article
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1 H-NMR Analysis.
- Published in:
- Molecules, 2023, v. 28, n. 13, p. 4916, doi. 10.3390/molecules28134916
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- Publication type:
- Article
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31566-z
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- Publication type:
- Article
Incidence of fetal akinesia-hypokinesia deformation sequence: a population-based study.
- Published in:
- 2009
- By:
- Publication type:
- Letter
KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 2, p. 332, doi. 10.1002/ana.26662
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- Publication type:
- Article
Characteristics and outcome of Goodpasture's disease in children.
- Published in:
- Clinical Rheumatology, 2012, v. 31, n. 12, p. 1745, doi. 10.1007/s10067-012-2062-9
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- Publication type:
- Article
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
- Published in:
- Bioinformatics, 2023, v. 39, n. 5, p. 1, doi. 10.1093/bioinformatics/btad290
- By:
- Publication type:
- Article
Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1051, doi. 10.3390/genes12071051
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- Publication type:
- Article
Prevalence and causes of infantile nystagmus in a large population‐based Danish cohort.
- Published in:
- Acta Ophthalmologica (1755375X), 2020, v. 98, n. 5, p. 506, doi. 10.1111/aos.14354
- By:
- Publication type:
- Article
Pyridoxine or pyridoxal‐5‐phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 6, p. 789, doi. 10.1111/dmcn.15142
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- Publication type:
- Article
Neurological outcome in WDR62 primary microcephaly.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 4, p. 509, doi. 10.1111/dmcn.15060
- By:
- Publication type:
- Article
Neurological manifestation of 22q11.2 deletion syndrome.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 3, p. 1695, doi. 10.1007/s10072-021-05825-8
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- Publication type:
- Article
Neurological manifestations of neurofibromatosis: a review.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Small duct autoimmune sclerosing cholangitis and Crohn colitis in a 10-year-old child. A case report and review of the literature.
- Published in:
- Diagnostic Pathology, 2012, v. 7, n. 1, p. 100, doi. 10.1186/1746-1596-7-100
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- Publication type:
- Article
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1837, doi. 10.1093/brain/awad403
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- Publication type:
- Article
Clinical and molecular characterization of patients with YWHAG‐related epilepsy.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 5, p. 1439, doi. 10.1111/epi.17939
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- Publication type:
- Article
Solving the unsolved genetic epilepsies: Current and future perspectives.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 12, p. 3143, doi. 10.1111/epi.17780
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- Publication type:
- Article
Perampanel as precision therapy in rare genetic epilepsies.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 4, p. 866, doi. 10.1111/epi.17530
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- Publication type:
- Article
PIGN encephalopathy: Characterizing the epileptology.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 4, p. 974, doi. 10.1111/epi.17173
- By:
- Publication type:
- Article
Lessons learned from 40 novel PIGA patients and a review of the literature.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 6, p. 1142, doi. 10.1111/epi.16545
- By:
- Publication type:
- Article
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.663643
- By:
- Publication type:
- Article
Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 2, p. 83, doi. 10.1159/000506384
- By:
- Publication type:
- Article
The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 4, p. e36, doi. 10.1111/epi.12927
- By:
- Publication type:
- Article
Letter to the editor: insular stroke presenting with acute onset of pain.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
- Published in:
- JAMA Neurology, 2017, v. 74, n. 10, p. 1228, doi. 10.1001/jamaneurol.2017.1714
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- Publication type:
- Article
Atypical painful stroke presentations: A review.
- Published in:
- Acta Neurologica Scandinavica, 2022, v. 146, n. 5, p. 465, doi. 10.1111/ane.13666
- By:
- Publication type:
- Article
Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2251, doi. 10.1002/ajmg.a.62753
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- Publication type:
- Article
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1667, doi. 10.1002/ajmg.a.62673
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- Publication type:
- Article
5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3844, doi. 10.1002/ajmg.a.62428
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- Publication type:
- Article
Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2877, doi. 10.1002/ajmg.a.61859
- By:
- Publication type:
- Article
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1991, doi. 10.1002/ajmg.a.40386
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- Publication type:
- Article
Cover Image, Volume 170A, Number 6, June 2016.
- Published in:
- 2016
- By:
- Publication type:
- Other
Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1479, doi. 10.1002/ajmg.a.37626
- By:
- Publication type:
- Article
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 6, p. 1, doi. 10.1371/journal.pgen.1009608
- By:
- Publication type:
- Article
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
- Published in:
- Neurogenetics, 2022, v. 23, n. 1, p. 27, doi. 10.1007/s10048-021-00666-1
- By:
- Publication type:
- Article
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 427, doi. 10.1111/cge.14577
- By:
- Publication type:
- Article
GPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 598, doi. 10.1111/cge.14405
- By:
- Publication type:
- Article
Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 5, p. 566, doi. 10.1111/cge.14275
- By:
- Publication type:
- Article
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 405, doi. 10.1111/cge.14020
- By:
- Publication type:
- Article