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Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 17, p. 9637, doi. 10.3390/ijms25179637
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- Publication type:
- Article
Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.
- Published in:
- JAMA Network Open, 2024, v. 7, n. 1, p. e2353514, doi. 10.1001/jamanetworkopen.2023.53514
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- Publication type:
- Article
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1231434
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- Publication type:
- Article
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
- Published in:
- Archives of Public Health, 2023, v. 81, n. 1, p. 1, doi. 10.1186/s13690-023-01112-4
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- Publication type:
- Article
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome.
- Published in:
- 2023
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- Publication type:
- Case Study
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 889, doi. 10.3390/genes13050889
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- Publication type:
- Article
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1316, doi. 10.3390/genes12091316
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- Publication type:
- Article
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1208, doi. 10.3390/genes12081208
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- Publication type:
- Article
Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1009, doi. 10.3390/genes12071009
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- Publication type:
- Article
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 962, doi. 10.3390/genes12070962
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- Publication type:
- Article
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 950, doi. 10.3390/genes12070950
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- Publication type:
- Article
Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.
- Published in:
- European Journal of Health Economics, 2024, v. 25, n. 6, p. 999, doi. 10.1007/s10198-023-01644-0
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- Publication type:
- Article
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 160, doi. 10.1002/ajmg.c.32034
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- Publication type:
- Article
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 2, p. 156, doi. 10.1111/cge.14247
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- Publication type:
- Article
SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 12, doi. 10.1111/cge.14140
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- Publication type:
- Article
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 172, doi. 10.1111/cge.13775
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- Publication type:
- Article
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.
- Published in:
- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1090082
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- Publication type:
- Article
Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient.
- Published in:
- 2009
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- Publication type:
- Letter
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34354-x
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- Publication type:
- Article
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0804-0
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- Publication type:
- Article
Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1207176
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- Publication type:
- Article
Pathogenic PTPN11 variants involving the poly‐glutamine Gln<sup>255</sup>‐Gln<sup>256</sup>‐Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulation.
- Published in:
- Human Mutation, 2020, v. 41, n. 6, p. 1171, doi. 10.1002/humu.24007
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- Publication type:
- Article
Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.
- Published in:
- Journal of Personalized Medicine, 2023, v. 13, n. 6, p. 899, doi. 10.3390/jpm13060899
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- Publication type:
- Article
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 3, p. 473, doi. 10.1093/hmg/ddac213
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- Publication type:
- Article
Broadening the phenotypic spectrum of Beta3GalT6‐associated phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3153, doi. 10.1002/ajmg.a.62399
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- Publication type:
- Article
Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1712, doi. 10.1002/ajmg.a.62157
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- Publication type:
- Article
PPP1R21‐related syndromic intellectual disability: Report of an adult patient and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3014, doi. 10.1002/ajmg.a.61889
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- Publication type:
- Article
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 661, doi. 10.1002/ajmg.a.37503
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- Publication type:
- Article
The 'old theme' of variability versus transitory phenotypes in thanatophoric dysplasia type 1: Two 19-week-old fetuses with ('San Diego' variant) and without ragged metaphyses due to the same FGFR3 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2675, doi. 10.1002/ajmg.a.36131
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- Publication type:
- Article
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
- Published in:
- 2020
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- Publication type:
- journal article
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 446, doi. 10.1002/mgg3.376
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- Publication type:
- Article