Found: 31
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A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 19, p. 3090, doi. 10.3390/cells11193090
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- Article
SeSAME/EAST syndrome-phenotypic variability and delayed activity of the distal convoluted tubule.
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- Pediatric Nephrology, 2012, v. 27, n. 11, p. 2081, doi. 10.1007/s00467-012-2219-4
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- Article
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2318, doi. 10.1093/hmg/ddu749
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- Article
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1553, doi. 10.1093/brain/awad405
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- Article
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
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- Nature, 2012, v. 482, n. 7383, p. 98, doi. 10.1038/nature10814
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- Article
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.
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- Frontiers in Cellular Neuroscience, 2019, p. 1, doi. 10.3389/fncel.2019.00425
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- Article
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
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- Nature Genetics, 2014, v. 46, n. 10, p. 1135, doi. 10.1038/ng.3066
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- Article
Corrigendum: Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
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- Nature Genetics, 2014, v. 46, n. 7, p. 759, doi. 10.1038/ng0714-759b
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- Article
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
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- Nature Genetics, 2014, v. 46, n. 6, p. 613, doi. 10.1038/ng.2956
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- Publication type:
- Article
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
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- Nature Genetics, 2013, v. 45, n. 9, p. 1050, doi. 10.1038/ng.2695
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- Article
Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule.
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- Nature Genetics, 2006, v. 38, n. 10, p. 1124, doi. 10.1038/ng1877
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- Article
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.20125
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- Publication type:
- Article
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
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- eLife, 2015, p. 1, doi. 10.7554/eLife.06315.001
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- Publication type:
- Article
An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred.
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- Pediatric Dermatology, 2012, v. 29, n. 6, p. 725, doi. 10.1111/j.1525-1470.2012.01757.x
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- Article
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination.
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- Clinical Genetics, 2021, v. 100, n. 2, p. 176, doi. 10.1111/cge.13973
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- Article
Novel EWSR1‐VGLL1 fusion in a pediatric neuroepithelial neoplasm.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 791, doi. 10.1111/cge.13703
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- Article
A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita.
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- Annals of the New York Academy of Sciences, 2018, v. 1433, n. 1, p. 7, doi. 10.1111/nyas.13962
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- Article
Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.
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- American Journal of Case Reports, 2020, v. 21, p. 1, doi. 10.12659/AJCR.924527
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- Publication type:
- Article
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22?23.
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- Nature Genetics, 2000, v. 26, n. 3, p. 354, doi. 10.1038/81677
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- Article
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
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- Human Genetics, 2023, v. 142, n. 1, p. 21, doi. 10.1007/s00439-022-02477-2
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- Article
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.
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- 2015
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- Publication type:
- journal article
Identification of somatic mutations in parathyroid tumors using whole-exome sequencing.
- Published in:
- 2012
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- Publication type:
- journal article
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
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- Journal of Clinical Investigation, 2015, v. 125, n. 4, p. 1703, doi. 10.1172/JCI64415
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- Article
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
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- JAMA Neurology, 2023, v. 80, n. 6, p. 578, doi. 10.1001/jamaneurol.2023.0473
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- Article
DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease.
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- JAMA Neurology, 2021, v. 78, n. 8, p. 993, doi. 10.1001/jamaneurol.2021.1681
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- Article
Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus.
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- JAMA Pediatrics, 2021, v. 175, n. 3, p. 310, doi. 10.1001/jamapediatrics.2020.4878
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- Article
Familial cortical myoclonus with a mutation in NOL3.
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- Annals of Neurology, 2012, v. 72, n. 2, p. 175, doi. 10.1002/ana.23666
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- Article
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.892
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- Article
Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst.
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- JAMA Neurology, 2017, v. 74, n. 12, p. 1503, doi. 10.1001/jamaneurol.2017.3399
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- Article
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
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- 2022
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- Publication type:
- journal article
Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma.
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- 2016
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- Publication type:
- journal article