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The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect.
- Published in:
- Scientific Reports, 2024, p. 1, doi. 10.1038/s41598-024-71667-x
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- Publication type:
- Article
Array-based comparative genomic hybridization in early-stage mycosis fungoides: Recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.
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- Genes, Chromosomes & Cancer, 2008, v. 47, n. 12, p. 1067, doi. 10.1002/gcc.20601
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- Publication type:
- Article
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.
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- Molecular Medicine, 2018, v. 24, n. 1, p. N.PAG, doi. 10.1186/s10020-018-0041-6
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- Publication type:
- Article
Correction to: Monogenic diabetes clinic (MDC): 3‑year experience.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Monogenic diabetes clinic (MDC): 3-year experience.
- Published in:
- Acta Diabetologica, 2023, v. 60, n. 1, p. 61, doi. 10.1007/s00592-022-01972-2
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- Publication type:
- Article
A New Case of Autosomal-Dominant POLR3B -Related Disorder: Widening Genotypic and Phenotypic Spectrum.
- Published in:
- 2023
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- Publication type:
- Case Study
The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 6, p. 793, doi. 10.3390/brainsci11060793
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- Publication type:
- Article
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
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- Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1327802
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- Publication type:
- Article
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
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- Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1327802
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- Publication type:
- Article
Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.869042
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- Article
Novel clinical features associated with Clouston syndrome.
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- International Journal of Dermatology, 2019, v. 58, n. 8, p. e143, doi. 10.1111/ijd.14507
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- Publication type:
- Article
Comparing the MLC and JavaNNS Approaches in Classifying Multi-Temporal LANDSAT Satellite Imagery over an Ephemeral River Area.
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- International Journal of Agricultural & Environmental Information Systems, 2015, v. 6, n. 4, p. 83, doi. 10.4018/IJAEIS.2015100105
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- Publication type:
- Article
Thromboembolism after COVID-19 vaccine in patients with preexisting thrombocytopenia.
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- Cell Death & Disease, 2021, v. 12, n. 8, p. 1, doi. 10.1038/s41419-021-04058-z
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- Publication type:
- Article
Inhibition of HECT E3 ligases as potential therapy for COVID-19.
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- Cell Death & Disease, 2021, v. 12, n. 4, p. 1, doi. 10.1038/s41419-021-03513-1
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- Publication type:
- Article
WWP1 germline variants are associated with normocephalic autism spectrum disorder.
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- Cell Death & Disease, 2020, v. 11, n. 7, p. 1, doi. 10.1038/s41419-020-2681-z
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- Publication type:
- Article
Process Cooling Market in Europe: Assessment of the Final Energy Consumption for the Year 2016.
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- Sustainability (2071-1050), 2023, v. 15, n. 4, p. 3698, doi. 10.3390/su15043698
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- Publication type:
- Article
Potential Evolution of the Cooling Market in the EU27+UK: An Outlook until 2030.
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- Sustainability (2071-1050), 2022, v. 14, n. 8, p. N.PAG, doi. 10.3390/su14084461
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- Publication type:
- Article
Recent Advances in District Cooling Diffusion in the EU27+UK: An Assessment of the Market.
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- Sustainability (2071-1050), 2022, v. 14, n. 7, p. 4128, doi. 10.3390/su14074128
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- Publication type:
- Article
Screening of Cooling Technologies in Europe: Alternatives to Vapour Compression and Possible Market Developments.
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- Sustainability (2071-1050), 2022, v. 14, n. 5, p. N.PAG, doi. 10.3390/su14052971
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- Publication type:
- Article
Space Cooling Market in Europe: Assessment of the Final Energy Consumption for the Year 2016.
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- Sustainability (2071-1050), 2022, v. 14, n. 5, p. N.PAG, doi. 10.3390/su14052667
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- Publication type:
- Article
A Spatially-Explicit Economic and Financial Assessment of Closed-Loop Ground-Source Geothermal Heat Pumps: A Case Study for the Residential Buildings of Valle d'Aosta Region.
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- Sustainability (2071-1050), 2021, v. 13, n. 22, p. 12516, doi. 10.3390/su132212516
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- Publication type:
- Article
Land Use Change Impact on Flooding Areas: The Case Study of Cervaro Basin (Italy).
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- Sustainability (2071-1050), 2016, v. 8, n. 10, p. 996, doi. 10.3390/su8100996
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- Publication type:
- Article
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.
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- Acta Myologica, 2019, v. 38, n. 2, p. 33
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- Publication type:
- Article
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
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- Neurogenetics, 2019, v. 20, n. 3, p. 145, doi. 10.1007/s10048-019-00581-6
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- Publication type:
- Article
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
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- Neurogenetics, 2011, v. 12, n. 3, p. 241, doi. 10.1007/s10048-011-0283-8
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- Publication type:
- Article
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy.
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- Pediatric Cardiology, 2023, v. 44, n. 8, p. 1736, doi. 10.1007/s00246-023-03266-y
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- Publication type:
- Article
Hemodynamic Assessment of a Large Pulmonary Arteriovenous Malformation in a Neonate: Case Report and Review of Literature.
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- Pediatric Cardiology, 2022, v. 43, n. 6, p. 1383, doi. 10.1007/s00246-022-02862-8
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- Publication type:
- Article
Deciphering Genetic Variants of Warfarin Metabolism in Children With Ventricular Assist Devices.
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- Pediatric Cardiology, 2021, v. 42, n. 5, p. 1082, doi. 10.1007/s00246-021-02585-2
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- Publication type:
- Article
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.
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- Journal of Cardiovascular Development & Disease (JCDD), 2024, v. 11, n. 4, p. 114, doi. 10.3390/jcdd11040114
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- Publication type:
- Article
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.
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- Journal of Cardiovascular Development & Disease (JCDD), 2022, v. 9, n. 10, p. 332, doi. 10.3390/jcdd9100332
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- Publication type:
- Article
X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients.
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- Experimental Dermatology, 2019, v. 28, n. 10, p. 1156, doi. 10.1111/exd.13667
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- Publication type:
- Article
Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1315291
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- Publication type:
- Article
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1307934
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- Publication type:
- Article
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1276697
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- Publication type:
- Article
Editorial: Unravelling the basis of non-invasive prenatal screening results.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1247764
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- Publication type:
- Article
Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1364234
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- Publication type:
- Article
Object-Based Greenhouse Mapping Using Very High Resolution Satellite Data and Landsat 8 Time Series.
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- Remote Sensing, 2016, v. 8, n. 6, p. 513, doi. 10.3390/rs8060513
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- Publication type:
- Article
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with “Essential” Autism Spectrum Disorders.
- Published in:
- Journal of Autism & Developmental Disorders, 2018, v. 48, n. 2, p. 442, doi. 10.1007/s10803-017-3329-4
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- Publication type:
- Article
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
- Published in:
- 2022
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- Publication type:
- journal article
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
- Published in:
- 2020
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- Publication type:
- journal article
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12900, doi. 10.3390/ijms232112900
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- Publication type:
- Article
Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8617, doi. 10.3390/ijms22168617
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- Publication type:
- Article
Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5484, doi. 10.3390/ijms22115484
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- Publication type:
- Article
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2106, doi. 10.3390/ijms22042106
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- Publication type:
- Article
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 750, doi. 10.3390/ijms22020750
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- Publication type:
- Article
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 8, p. 1875, doi. 10.3390/ijms20081875
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- Publication type:
- Article
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1459, doi. 10.3390/ijms20061459
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- Publication type:
- Article
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 82, doi. 10.3390/ijms19010082
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- Publication type:
- Article
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.
- Published in:
- 2019
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- Publication type:
- journal article
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study