Found: 29
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Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01699-5
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- Publication type:
- Article
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
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- Movement Disorders, 2012, v. 27, n. 6, p. 789, doi. 10.1002/mds.24980
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- Publication type:
- Article
Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 1, p. 106, doi. 10.1001/jamaneurol.2014.1753
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- Publication type:
- Article
Increased yield of exome sequencing by off-target mitochondrial DNA analysis.
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- Annals of Neurology, 2015, v. 77, n. 3, p. 553, doi. 10.1002/ana.24360
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- Publication type:
- Article
Defective i<sup>6</sup>A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pgen.1004424
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- Publication type:
- Article
Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.
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- Journal of Crohn's & Colitis, 2023, v. 17, n. 1, p. 49, doi. 10.1093/ecco-jcc/jjac103
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- Publication type:
- Article
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4287, doi. 10.1038/ncomms5287
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- Publication type:
- Article
Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0095453
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- Publication type:
- Article
Genetic Variation in VEGF Does Not Contribute Significantly to the Risk of Congenital Cardiovascular Malformation.
- Published in:
- PLoS ONE, 2009, v. 4, n. 3, p. 1, doi. 10.1371/journal.pone.0004978
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- Publication type:
- Article
NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.
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- Science Immunology, 2024, v. 9, n. 95, p. 1, doi. 10.1126/sciimmunol.ade5705
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- Publication type:
- Article
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
- Published in:
- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00021
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- Article
The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
- Published in:
- 2015
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- Publication type:
- letter
Reply: Evaluation of exome sequencing variation in undiagnosed ataxias.
- Published in:
- 2015
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- Publication type:
- letter
Evaluation of exome sequencing variation in undiagnosed ataxias.
- Published in:
- 2015
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- Publication type:
- commentary
Exome sequencing in undiagnosed inherited and sporadic ataxias.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 276, doi. 10.1093/brain/awu348
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- Publication type:
- Article
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1323, doi. 10.1093/brain/awu060
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- Publication type:
- Article
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. e271, doi. 10.1093/brain/awt306
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- Publication type:
- Article
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. e228, doi. 10.1093/brain/aws197
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- Publication type:
- Article
Titin mutation segregates with hereditary myopathy with early respiratory failure.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1695, doi. 10.1093/brain/aws102
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- Publication type:
- Article
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies.
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- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 1, p. 68, doi. 10.1001/jama.2014.7184
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- Publication type:
- Article
Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.
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- Journal of Neurology, 2015, v. 262, n. 7, p. 1673, doi. 10.1007/s00415-015-7755-y
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- Publication type:
- Article
ANO10 mutations cause ataxia and coenzyme Q deficiency.
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- Journal of Neurology, 2014, v. 261, n. 11, p. 2192, doi. 10.1007/s00415-014-7476-7
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- Publication type:
- Article
Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
- Published in:
- 2016
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- Publication type:
- Erratum
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 2, p. 117, doi. 10.1007/s10875-016-0232-2
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- Publication type:
- Article
Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.
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- PLoS Genetics, 2022, v. 18, n. 4, p. 1, doi. 10.1371/journal.pgen.1010068
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- Publication type:
- Article
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2187, doi. 10.1093/hmg/ddy127
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- Publication type:
- Article
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1186, doi. 10.1093/hmg/ddy033
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- Publication type:
- Article
A response to Steve Myers’ article Entitled ‘(De)Constructing the Risk Categories in the AIM Assessment Model for Children with Sexually Harmful Behaviours.
- Published in:
- Children & Society, 2008, v. 22, n. 1, p. 63, doi. 10.1111/j.1099-0860.2007.00134_1.x
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- Publication type:
- Article
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
- Published in:
- EMBO Journal, 2020, v. 39, n. 23, p. 1, doi. 10.15252/embj.2020105364
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- Publication type:
- Article