Found: 16
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Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.
- Published in:
- 2019
- By:
- Publication type:
- case study
Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.
- Published in:
- 2020
- By:
- Publication type:
- case study
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
- Published in:
- Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0606-6
- By:
- Publication type:
- Article
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
- Published in:
- 2020
- By:
- Publication type:
- journal article
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
- Published in:
- Bioinformatics, 2019, v. 35, n. 22, p. 4754, doi. 10.1093/bioinformatics/btz431
- By:
- Publication type:
- Article
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82050-5
- By:
- Publication type:
- Article
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. 17, p. 9686, doi. 10.1093/nar/gkab726
- By:
- Publication type:
- Article
Babelomics 5.0: functional interpretation for new generations of genomic data.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. W1, p. W117, doi. 10.1093/nar/gkv384
- By:
- Publication type:
- Article
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00578
- By:
- Publication type:
- Article
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15336-3
- By:
- Publication type:
- Article
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
- By:
- Publication type:
- Article
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
- By:
- Publication type:
- Article
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1106
- By:
- Publication type:
- Article