Found: 13
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Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder.
- Published in:
- Translational Psychiatry, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41398-018-0175-x
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- Publication type:
- Article
A single amino acid deletion in the ER Ca<sup>2+</sup> sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome–causing R304W mutation.
- Published in:
- Science Signaling, 2023, v. 16, n. 771, p. 1, doi. 10.1126/scisignal.add0509
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- Article
Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain.
- Published in:
- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-01784-6
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- Article
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 1985, doi. 10.3390/genes14111985
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- Article
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.
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- Genes, 2016, v. 7, n. 12, p. 108, doi. 10.3390/genes7120108
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- Article
Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086340
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- Article
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
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- 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
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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- Article
A Dominant STIM1 Mutation Causes Stormorken Syndrome.
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- Human Mutation, 2014, v. 35, n. 5, p. 556, doi. 10.1002/humu.22544
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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
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration.
- Published in:
- Thyroid, 2018, v. 28, n. 11, p. 1406, doi. 10.1089/thy.2018.0595
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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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- Article