Found: 22
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Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 7, p. 3555, doi. 10.1007/s10072-024-07420-z
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- Publication type:
- Article
NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 10, p. 5198, doi. 10.3390/ijms25105198
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- Publication type:
- Article
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6100, doi. 10.3390/ijms24076100
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- Publication type:
- Article
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 4879, doi. 10.3390/ijms23094879
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- Publication type:
- Article
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5609, doi. 10.3390/ijms22115609
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- Publication type:
- Article
Letter to the Editor: Breastfeeding and COVID-19 Vaccine: Yes We Can.
- Published in:
- 2021
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- Publication type:
- Letter to the Editor
Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.
- Published in:
- BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/9498140
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- Publication type:
- Article
Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability.
- Published in:
- International Journal of Genomics, 2017, p. 1, doi. 10.1155/2017/4798474
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- Publication type:
- Article
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2916, doi. 10.1002/ajmg.a.37669
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- Publication type:
- Article
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 804, doi. 10.1002/humu.23012
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- Publication type:
- Article
Modulation of copper deficiency responses by diurnal and circadian rhythms in Arabidopsis thaliana.
- Published in:
- Journal of Experimental Botany, 2016, v. 67, n. 1, p. 391, doi. 10.1093/jxb/erv474
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- Publication type:
- Article
Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1614, doi. 10.1002/ajmg.a.37046
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- Publication type:
- Article
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1342, doi. 10.1002/ajmg.a.36999
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- Publication type:
- Article
In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/341986
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- Publication type:
- Article
Prenatal Diagnosis of a Female Fetus with Ring Chromosome 9, 46,XX,r(9)(p24q34), and a de novo Interstitial 9p Deletion.
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- Cytogenetic & Genome Research, 2015, v. 144, n. 4, p. 275, doi. 10.1159/000370256
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- Publication type:
- Article
Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 918, doi. 10.1002/ajmg.a.36371
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- Publication type:
- Article
Comparison of global responses to mild deficiency and excess copper levels in Arabidopsis seedlings.
- Published in:
- Metallomics, 2013, v. 5, n. 9, p. 1234, doi. 10.1039/c3mt00025g
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- Publication type:
- Article
Large deletion in the Factor VIII gene ( F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.
- Published in:
- British Journal of Haematology, 2012, v. 158, n. 1, p. 138, doi. 10.1111/j.1365-2141.2012.09092.x
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- Publication type:
- Article
Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.
- Published in:
- 2012
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- Publication type:
- journal article
Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 2, p. 153, doi. 10.1038/jhg.2011.145
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- Publication type:
- Article
Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies.
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- BMC Medical Genomics, 2010, v. 3, p. 54, doi. 10.1186/1755-8794-3-54
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- Publication type:
- Article
The Arabidopsis heavy metal P-type ATPase HMA5 interacts with metallochaperones and functions in copper detoxification of roots.
- Published in:
- Plant Journal, 2006, v. 45, n. 2, p. 225, doi. 10.1111/j.1365-313X.2005.02601.x
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- Publication type:
- Article