Found: 12
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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1822, doi. 10.1093/brain/awae010
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- Article
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.
- Published in:
- Genes, 2016, v. 7, n. 12, p. 108, doi. 10.3390/genes7120108
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- Publication type:
- Article
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-3
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- Publication type:
- Article
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
- Published in:
- 2013
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- Publication type:
- journal article
shRNA Expression Constructs Designed Directly from siRNA Oligonucleotide Sequences.
- Published in:
- Molecular Biotechnology, 2010, v. 45, n. 2, p. 116, doi. 10.1007/s12033-010-9247-8
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- Publication type:
- Article
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0260-4
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- Publication type:
- Article
Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha.
- Published in:
- Journal of the Endocrine Society, 2023, v. 7, n. 8, p. 1, doi. 10.1210/jendso/bvad089
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- Publication type:
- Article
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0157-0
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- Publication type:
- Article
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2179, doi. 10.1002/humu.24127
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- Publication type:
- Article
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5845, doi. 10.1093/hmg/ddv305
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- Publication type:
- Article
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 657, doi. 10.1002/ajmg.a.36944
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- Publication type:
- Article
Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX 3 Expression.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1137, doi. 10.1002/ajmg.a.35823
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- Publication type:
- Article