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Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05480-9
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- Publication type:
- Article
High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 382, doi. 10.1034/j.1399-0004.1999.550515.x
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- Publication type:
- Article
Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7395, doi. 10.3390/ijms22147395
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- Publication type:
- Article
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1549, doi. 10.3390/ijms22041549
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- Publication type:
- Article
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00652-2
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- Publication type:
- Article
Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0804-z
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- Publication type:
- Article
Estudios de asociación de genoma completo (GWAS) versus validación funcional: reto de la era post-GWAS.
- Published in:
- Journal of Osteoporosis & Mineral Metabolism / Revista de Osteoporosis y Metabolismo Mineral (Spanish edition), 2023, v. 15, n. 1, p. 29, doi. 10.20960/RevOsteoporosMetabMiner.000008
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- Publication type:
- Article
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
- Published in:
- Nature Genetics, 1999, v. 23, n. 1, p. 16, doi. 10.1038/12612
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- Publication type:
- Article
Cluster Analysis of Clinical Data Identifies Fibromyalgia Subgroups.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074873
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- Publication type:
- Article
PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063377
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- Publication type:
- Article
Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups.
- Published in:
- PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0007230
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- Publication type:
- Article
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
- Published in:
- Journal of Molecular Medicine, 2002, v. 80, n. 2, p. 124, doi. 10.1007/s00109-001-0310-6
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- Publication type:
- Article
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
- Published in:
- Human Genetics, 2002, v. 111, n. 2, p. 190, doi. 10.1007/s00439-002-0750-2
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- Publication type:
- Article
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 40, doi. 10.1007/s004390051007
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- Publication type:
- Article
Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era.
- Published in:
- Journal of Osteoporosis & Mineral Metabolism / Revista de Osteoporosis y Metabolismo Mineral (English edition), 2023, v. 15, n. 1, p. 29, doi. 10.20960/RevOsteoporosMetabMiner.00008
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- Publication type:
- Article
High carrier frequency of the 35delG deafness mutation in European populations.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 1, p. 19
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- Publication type:
- Article
TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.
- Published in:
- Journal of Cerebral Blood Flow & Metabolism, 2012, v. 32, n. 6, p. 1061, doi. 10.1038/jcbfm.2012.24
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- Publication type:
- Article
Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene-environment interaction approach.
- Published in:
- Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0410-0
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- Publication type:
- Article
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
- Published in:
- 2022
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- Publication type:
- journal article
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein.
- Published in:
- BMC Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2156-14-61
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- Publication type:
- Article
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 7, p. 987, doi. 10.1007/s10875-020-00794-7
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- Publication type:
- Article
Variants at APOE influence risk of deep and lobar intracerebral hemorrhage.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 6, p. 934, doi. 10.1002/ana.22134
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- Publication type:
- Article
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.
- Published in:
- PLoS Computational Biology, 2021, v. 17, n. 2, p. 1, doi. 10.1371/journal.pcbi.1007784
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- Publication type:
- Article
High-throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndrome.
- Published in:
- Journal of Clinical Laboratory Analysis, 2023, v. 37, n. 23/24, p. 1, doi. 10.1002/jcla.24982
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- Publication type:
- Article
MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 15, p. 3067
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- Publication type:
- Article
eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 865, doi. 10.1002/humu.23772
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- Publication type:
- Article
Allele balance bias identifies systematic genotyping errors and false disease associations.
- Published in:
- Human Mutation, 2019, v. 40, n. 1, p. 115, doi. 10.1002/humu.23674
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- Publication type:
- Article
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40874-2
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- Publication type:
- Article
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 947, doi. 10.1093/hmg/10.9.947
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- Publication type:
- Article
Connexin 31 ( GJB3 ) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 947, doi. 10.1093/hmg/10.9.947
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- Publication type:
- Article
A decade of structural variants: description, history and methods to detect structural variation.
- Published in:
- Briefings in Functional Genomics, 2015, v. 14, n. 5, p. 305, doi. 10.1093/bfgp/elv014
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- Publication type:
- Article
Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 146, doi. 10.3390/genes13010146
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- Publication type:
- Article
Whole genome and exome sequencing of monozygotic twins discordant for Crohn’s disease
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- BMC Genomics, 2014, v. 15, n. 1, p. 564, doi. 10.1186/1471-2164-15-564
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- Publication type:
- Article
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
- Published in:
- Neurogenetics, 2010, v. 11, n. 3, p. 291, doi. 10.1007/s10048-009-0228-7
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- Publication type:
- Article
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
- Published in:
- Human Mutation, 2000, v. 16, n. 3, p. 190, doi. 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I
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- Publication type:
- Article
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 ( GJB3) gene.
- Published in:
- Human Mutation, 2000, v. 15, n. 5, p. 481, doi. 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO;2-7
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- Publication type:
- Article
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.
- Published in:
- Human Mutation, 1999, v. 14, n. 6, p. 520, doi. 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K
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- Publication type:
- Article
Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.
- Published in:
- JBMR Plus, 2022, v. 6, n. 4, p. 1, doi. 10.1002/jbm4.10602
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- Publication type:
- Article