Found: 19
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Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
- Published in:
- Cell Death & Disease, 2024, v. 15, n. 5, p. 1, doi. 10.1038/s41419-024-06679-6
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- Publication type:
- Article
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.
- Published in:
- 2016
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- Publication type:
- Letter
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 215, doi. 10.1007/s10048-013-0373-x
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- Publication type:
- Article
Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
- Published in:
- 2022
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- Publication type:
- journal article
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
- Published in:
- 2016
- By:
- Publication type:
- journal article
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
- Published in:
- Nature Genetics, 2015, v. 47, n. 11, p. 1260, doi. 10.1038/ng.3376
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- Publication type:
- Article
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Somatic genetic rescue of a germline ribosome assembly defect.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24999-5
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- Publication type:
- Article
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 10, p. 499, doi. 10.1002/bdr2.2011
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- Publication type:
- Article
Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
- Published in:
- Birth Defects Research, 2021, v. 113, n. 18, p. 1324, doi. 10.1002/bdr2.1950
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- Publication type:
- Article
Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34493-1
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- Publication type:
- Article
Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
- Published in:
- 2021
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- Publication type:
- journal article
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells.
- Published in:
- Science Translational Medicine, 2024, v. 16, n. 753, p. 1, doi. 10.1126/scitranslmed.adj1597
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- Publication type:
- Article
Enhancing Immunotherapy Response Prediction in Metastatic Lung Adenocarcinoma: Leveraging Shallow and Deep Learning with CT-Based Radiomics across Single and Multiple Tumor Sites.
- Published in:
- Cancers, 2024, v. 16, n. 13, p. 2491, doi. 10.3390/cancers16132491
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- Publication type:
- Article
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 706, doi. 10.1002/ajmg.a.38061
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- Publication type:
- Article
A novel recurrent LIS1 splice site mutation in classic lissencephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 561, doi. 10.1002/ajmg.a.38041
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- Publication type:
- Article
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-024-01660-6
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- Publication type:
- Article