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Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1286747
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- Publication type:
- Article
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
- Published in:
- 2023
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- Publication type:
- Case Study
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01582-z
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- Publication type:
- Article
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1804, doi. 10.1093/brain/awac417
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- Publication type:
- Article
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
- Published in:
- Human Reproduction, 2023, v. 38, n. 5, p. 992, doi. 10.1093/humrep/dead052
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- Publication type:
- Article
Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 4, p. 1, doi. 10.1002/pbc.30121
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- Publication type:
- Article
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01519-8
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- Publication type:
- Article
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17337-2
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- Publication type:
- Article
Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31264-w
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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
A Humanized Mouse Strain That Develops Spontaneously Immune-Mediated Diabetes.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.748679
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- Publication type:
- Article
Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 3, p. 348, doi. 10.1111/cge.13996
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- Publication type:
- Article
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. W1, p. W93, doi. 10.1093/nar/gkab347
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- Publication type:
- Article
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.
- Published in:
- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.545339
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- Publication type:
- Article
First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.
- Published in:
- European Journal of Endocrinology, 2020, v. 183, n. 5, p. K1, doi. 10.1530/EJE-20-0255
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- Publication type:
- Article
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
- Published in:
- 2020
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- Publication type:
- journal article
Data quality and the Internet of Things.
- Published in:
- Computing, 2020, v. 102, n. 2, p. 573, doi. 10.1007/s00607-019-00746-z
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- Publication type:
- Article
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 16, p. 2720, doi. 10.1093/hmg/ddz091
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- Publication type:
- Article
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1304, doi. 10.1002/ajmg.a.61151
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- Publication type:
- Article
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 12, p. N.PAG, doi. 10.15252/emmm.201809569
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- Publication type:
- Article
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
- Published in:
- 2018
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- Publication type:
- Correction Notice
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 10, p. 1234, doi. 10.1001/jamaneurol.2018.1478
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- Publication type:
- Article
Humanized Mouse Model to Study Type 1 Diabetes.
- Published in:
- 2018
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- Publication type:
- journal article
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
- Published in:
- 2018
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- Publication type:
- journal article
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
- Published in:
- Neuro-Oncology, 2018, v. 20, n. 7, p. 917, doi. 10.1093/neuonc/noy009
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- Publication type:
- Article
Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.
- Published in:
- Thyroid, 2018, v. 28, n. 7, p. 941, doi. 10.1089/thy.2017.0502
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- Publication type:
- Article
Role of <italic>miR-146a</italic> in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders.
- Published in:
- Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0219-3
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- Publication type:
- Article
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007386
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- Publication type:
- Article
Novel de novo <italic>ZBTB20</italic> mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1091, doi. 10.1002/ajmg.a.38684
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- Publication type:
- Article
Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.
- Published in:
- PLoS Neglected Tropical Diseases, 2018, v. 12, n. 5, p. 1, doi. 10.1371/journal.pntd.0006429
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- Publication type:
- Article
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 6, p. 538, doi. 10.1002/bdr2.1191
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- Publication type:
- Article
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 2, p. 266, doi. 10.1093/hmg/ddx396
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- Publication type:
- Article
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 181, doi. 10.1002/ajmg.a.38536
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- Publication type:
- Article
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
- Published in:
- 2017
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- Publication type:
- journal article
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1355, doi. 10.1002/humu.23274
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- Publication type:
- Article
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.
- Published in:
- Journal of Clinical Immunology, 2017, v. 37, n. 7, p. 715, doi. 10.1007/s10875-017-0434-2
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- Publication type:
- Article
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.
- Published in:
- Nature Communications, 2017, v. 8, n. 7, p. 15910, doi. 10.1038/ncomms15910
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- Publication type:
- Article
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 581, doi. 10.1002/humu.23206
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- Publication type:
- Article
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.
- Published in:
- 2017
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- Publication type:
- journal article
Mutations in BOREALIN cause thyroid dysgenesis.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 3, p. 599, doi. 10.1093/hmg/ddw419
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- Publication type:
- Article
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
- Published in:
- 2016
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- Publication type:
- journal article
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1025, doi. 10.1002/humu.23031
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- Publication type:
- Article
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
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- Publication type:
- journal article
Refining the phenotype associated with CASC5 mutation.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 71, doi. 10.1007/s10048-015-0468-7
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- Publication type:
- 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
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
- Published in:
- Scientific Reports, 2015, p. 8666, doi. 10.1038/ncomms9666
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- Publication type:
- Article
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
- Published in:
- Nature Communications, 2015, v. 6, n. 10, p. 8666, doi. 10.1038/ncomms9666
- By:
- Publication type:
- Article
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1908, doi. 10.1002/ajmg.a.37094
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- Publication type:
- Article
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 929, doi. 10.1038/ejhg.2014.223
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- Publication type:
- Article
Contiguous mutation syndrome in the era of high-throughput sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 215, doi. 10.1002/mgg3.134
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- Publication type:
- Article