Found: 60
Select item for more details and to access through your institution.
Diagnostic value of partial exome sequencing in developmental disorders.
- Published in:
- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201041
- By:
- Publication type:
- Article
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
- Published in:
- Science Translational Medicine, 2020, v. 12, n. 556, p. 1, doi. 10.1126/scitranslmed.aay6848
- By:
- Publication type:
- Article
Monogenetic epilepsies and how to approach them in 2022.
- Published in:
- Medizinische Genetik, 2022, v. 34, n. 3, p. 201, doi. 10.1515/medgen-2022-2143
- By:
- Publication type:
- Article
Epilepsy and genetics.
- Published in:
- 2022
- By:
- Publication type:
- Editorial
Genetic testing in adults with developmental and epileptic encephalopathy – what do we know?
- Published in:
- Medizinische Genetik, 2022, v. 34, n. 3, p. 207, doi. 10.1515/medgen-2022-2144
- By:
- Publication type:
- Article
Diagnostik genetisch bedingter Epilepsien.
- Published in:
- Medizinische Genetik, 2019, v. 31, n. 3, p. 303, doi. 10.1007/s11825-019-00255-6
- By:
- Publication type:
- Article
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3885, doi. 10.1093/brain/awad111
- By:
- Publication type:
- Article
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 923, doi. 10.1093/brain/awac305
- By:
- Publication type:
- Article
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Predicting incidences of neurodevelopmental disorders.
- Published in:
- 2020
- By:
- Publication type:
- journal article
De novo GABRG2 mutations associated with epileptic encephalopathies.
- Published in:
- 2017
- By:
- Publication type:
- journal article
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 6, p. 958, doi. 10.1002/ana.26485
- By:
- Publication type:
- Article
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
- Published in:
- 2018
- By:
- Publication type:
- journal article
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Reply.
- Published in:
- 2017
- By:
- Publication type:
- letter
Reply.
- Published in:
- 2016
- By:
- Publication type:
- letter
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
DEPDC5 mutations in genetic focal epilepsies of childhood.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 5, p. 788, doi. 10.1002/ana.24127
- By:
- Publication type:
- Article
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 1, p. 147, doi. 10.1002/ana.24073
- By:
- Publication type:
- Article
Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2824, doi. 10.3390/ijms22062824
- By:
- Publication type:
- Article
Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 4, p. 239, doi. 10.1159/000448445
- By:
- Publication type:
- Article
Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 4, p. 182, doi. 10.1159/000447526
- By:
- Publication type:
- Article
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 4, p. 189, doi. 10.1159/000447461
- By:
- Publication type:
- Article
Towards a Molecular Syndromology of the Epilepsies.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 4, p. 169, doi. 10.1159/000448358
- By:
- Publication type:
- Article
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
- Published in:
- Nature Genetics, 2013, v. 45, n. 9, p. 1067, doi. 10.1038/ng.2728
- By:
- Publication type:
- Article
A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation.
- Published in:
- European Journal of Endocrinology, 2019, v. 180, n. 1, p. K1, doi. 10.1530/EJE-18-0601
- By:
- Publication type:
- Article
The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 2, p. 226, doi. 10.1111/cge.14241
- By:
- Publication type:
- Article
Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 5, p. 507, doi. 10.1515/jpem-2016-0435
- By:
- Publication type:
- Article
Novel <i>CACNA1A</i> mutation(s) associated with slow saccade velocities.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 12, p. 3010, doi. 10.1007/s00415-013-7099-4
- By:
- 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
Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01675-x
- By:
- Publication type:
- Article
Monogenic Human Skin Disorders.
- Published in:
- Dermatology (10188665), 2014, v. 229, n. 2, p. 55, doi. 10.1159/000362200
- By:
- Publication type:
- Article
Monogenic human skin disorders.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Correction: Diagnostic value of partial exome sequencing in developmental disorders.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Improving one-step scarless genome editing in Drosophila melanogaster by combining ovo<sup>D</sup> co-CRISPR selection with sgRNA target site masking.
- Published in:
- Biology Methods & Protocols, 2022, v. 7, n. 1, p. 1, doi. 10.1093/biomethods/bpac003
- By:
- Publication type:
- Article
De novo GRIN variants in NMDA receptor M2 channel pore‐forming loop are associated with neurological diseases.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2393, doi. 10.1002/humu.23895
- By:
- Publication type:
- Article
Relationship of electrophysiological dysfunction and clinical severity in SCN2A‐related epilepsies.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1942, doi. 10.1002/humu.23619
- By:
- Publication type:
- Article
Kutane Polypose bei einer Patientin mit APC-Variante ohne adenomatöse Polypose des Kolons.
- Published in:
- Der Hautarzt, 2021, v. 72, n. 10, p. 905, doi. 10.1007/s00105-021-04769-6
- By:
- Publication type:
- Article
High-Throughput Sequencing as First-Tier Diagnostics in Congenital and Early-Onset Disorders.
- Published in:
- JAMA Pediatrics, 2017, v. 171, n. 9, p. 833, doi. 10.1001/jamapediatrics.2017.1970
- By:
- Publication type:
- Article
Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
- By:
- Publication type:
- Article
Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
- By:
- Publication type:
- Article
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 19, p. 2857, doi. 10.1093/hmg/ddad104
- By:
- Publication type:
- Article
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 3, p. 440, doi. 10.1093/hmg/ddab265
- By:
- Publication type:
- Article
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 24, p. 2300, doi. 10.1093/hmg/ddab192
- By:
- Publication type:
- Article
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 23, p. 2300, doi. 10.1093/hmg/ddab192
- By:
- Publication type:
- Article
Galanin pathogenic mutations in temporal lobe epilepsy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3082, doi. 10.1093/hmg/ddv060
- By:
- Publication type:
- Article
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2447, doi. 10.1002/ajmg.a.61354
- By:
- Publication type:
- Article
Tentative Clinical Diagnosis of Lujan-Fryns Syndrome--A Conglomeration of Different Genetic Entities?
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 94, doi. 10.1002/ajmg.a.37378
- By:
- Publication type:
- Article
Compound‐heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 10, p. e132, doi. 10.1111/epi.17394
- By:
- Publication type:
- Article
Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 11, p. 2277, doi. 10.1111/epi.16371
- By:
- Publication type:
- Article