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A Recessively Inherited Risk Locus on Chromosome 13q22-31 Conferring Susceptibility to Schizophrenia.
- Published in:
- Schizophrenia Bulletin, 2021, v. 47, n. 3, p. 796, doi. 10.1093/schbul/sbaa161
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- Publication type:
- Article
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2164
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- Publication type:
- Article
Allogeneic haematopoietic stem cell transplantation for VEXAS syndrome: UK experience.
- Published in:
- British Journal of Haematology, 2022, v. 199, n. 5, p. 777, doi. 10.1111/bjh.18488
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- Publication type:
- Article
#33 Beavers to Weavers Exhibition.
- Published in:
- 2018
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- Publication type:
- Exhibition Review
MAKING SENSE OF GENES.
- Published in:
- 2018
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- Publication type:
- Book Review
Crowning glory.
- Published in:
- Biologist, 2014, v. 61, n. 6, p. 16
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- Publication type:
- Article
Neurodegenerative Disease and the NLRP3 Inflammasome.
- Published in:
- Frontiers in Pharmacology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphar.2021.643254
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- Publication type:
- Article
NONCONFORMIST BURIAL-GROUNDS AND GRAVESTONES.
- Published in:
- Notes & Queries, 1908, v. 10, n. 243, p. 151-b
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- Publication type:
- Article
MiR-195 and Its Target SEMA6D Regulate Chemoresponse in Breast Cancer.
- Published in:
- Cancers, 2021, v. 13, n. 23, p. 5979, doi. 10.3390/cancers13235979
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- Publication type:
- Article
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 132, doi. 10.1038/ejhg.2013.76
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- Publication type:
- Article
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy.
- Published in:
- Genome Biology, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13059-024-03172-3
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- Publication type:
- Article
A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 947, doi. 10.1007/s10875-022-01258-w
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- Publication type:
- Article
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 1, p. 158, doi. 10.1007/s10875-021-01161-w
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- Publication type:
- Article
Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype.
- Published in:
- 2021
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- Publication type:
- Letter
Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 2, p. 441, doi. 10.1007/s10875-020-00932-1
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- Publication type:
- Article
A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 6, p. 543, doi. 10.1002/mgg3.164
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- Publication type:
- Article
A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1417, doi. 10.1093/hmg/ddaa041
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- Publication type:
- Article
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1863, doi. 10.1093/hmg/ddx090
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- Publication type:
- Article
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3578, doi. 10.1093/hmg/ddw203
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- Publication type:
- Article
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5317, doi. 10.1093/hmg/ddu247
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- Publication type:
- Article
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 8, p. 2189, doi. 10.1093/hmg/ddt616
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- Publication type:
- Article
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 4, p. 776, doi. 10.1093/hmg/ddr509
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- Publication type:
- Article
SLC38A8 mutation spectrum in foveal hypoplasia.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.208
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- Publication type:
- Article
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100 000 genomes project.
- Published in:
- 2022
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- Publication type:
- Abstract
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. 567, doi. 10.1002/humu.24187
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- Publication type:
- Article
Cover, Volume 42, Issue 2.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. ii, doi. 10.1002/humu.24169
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- Publication type:
- Article
New variants and in silico analyses in GRK1 associated Oguchi disease.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 164, doi. 10.1002/humu.24140
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- Publication type:
- Article
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome.
- Published in:
- Oral Diseases, 2019, v. 25, n. 1, p. 182, doi. 10.1111/odi.12955
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- Publication type:
- Article
D-Type Cyclins in Development and Disease.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1445, doi. 10.3390/genes14071445
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- Publication type:
- Article
Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
- Published in:
- Frontiers in Physiology, 2017, p. 1, doi. 10.3389/fphys.2017.00435
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- Publication type:
- Article
A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities.
- Published in:
- Frontiers in Physiology, 2017, p. 1, doi. 10.3389/fphys.2017.00333
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- Publication type:
- Article
Who made the alt-right? The emergence of a reactionary political current from the darkest corners of the internet provokes difficult questions about free speech.
- Published in:
- New Humanist, 2017, v. 132, n. 4, p. 46
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- Publication type:
- Article
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0154-5
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- Publication type:
- Article