Found: 73
Select item for more details and to access through your institution.
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Riscontro occasionale di varianti emoglobiniche nel corso della determinazione di HbA<sub>1c</sub> in elettroforesi capillare: Hb Lepore.
- Published in:
- Biochimica Clinica, 2023, v. 47, n. 3, p. e40, doi. 10.19186/BC_2023.032
- By:
- Publication type:
- Article
Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.
- Published in:
- Clinical Genetics, 1995, v. 47, n. 6, p. 281, doi. 10.1111/j.1399-0004.1995.tb03965.x
- By:
- Publication type:
- Article
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 534, doi. 10.1093/brain/awac278
- By:
- Publication type:
- Article
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.
- Published in:
- Journal of Genetics, 2021, v. 100, n. 1, p. 1, doi. 10.1007/s12041-021-01261-x
- By:
- Publication type:
- Article
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 12, p. 2120, doi. 10.1111/j.1528-1167.2012.03718.x
- By:
- Publication type:
- Article
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3175, doi. 10.3390/ijms23063175
- By:
- Publication type:
- Article
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3084, doi. 10.3390/ijms23063084
- By:
- Publication type:
- Article
High-Throughput Gene and Protein Analysis Revealed the Response of Disc Cells to Vitamin D, Depending on the VDR FokI Variants.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9603, doi. 10.3390/ijms22179603
- By:
- Publication type:
- Article
Comprehensive Profiling of Secretome Formulations from Fetal- and Perinatal Human Amniotic Fluid Stem Cells.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3713, doi. 10.3390/ijms22073713
- By:
- Publication type:
- Article
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 609, doi. 10.3390/ijms18030609
- By:
- Publication type:
- Article
Banking together. A unified model of informed consent for biobanking.
- Published in:
- EMBO Reports, 2008, v. 9, n. 4, p. 307, doi. 10.1038/embor.2008.41
- By:
- Publication type:
- Article
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1056
- By:
- Publication type:
- Article
First Characterization of Human Amniotic Fluid Stem Cell Extracellular Vesicles as a Powerful Paracrine Tool Endowed with Regenerative Potential.
- Published in:
- Stem Cells Translational Medicine, 2017, v. 6, n. 5, p. 1340, doi. 10.1002/sctm.16-0297
- By:
- Publication type:
- Article
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 1, p. 20, doi. 10.3390/life13010020
- By:
- Publication type:
- Article
NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 7, p. 988, doi. 10.3390/life12070988
- By:
- Publication type:
- Article
Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1360055
- By:
- Publication type:
- Article
Psychiatric genetic counseling: A mapping exercise.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 8, p. 523, doi. 10.1002/ajmg.b.32735
- By:
- Publication type:
- Article
Hypokalaemia and failure to thrive: report of a misleading onset.
- Published in:
- Journal of Paediatrics & Child Health, 2010, v. 46, n. 5, p. 276, doi. 10.1111/j.1440-1754.2009.01684.x
- By:
- Publication type:
- Article
A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63553
- By:
- Publication type:
- Article
Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1836, doi. 10.1002/ajmg.a.63211
- By:
- Publication type:
- Article
Aortic dilation in Sotos syndrome: An underestimated feature?
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1819, doi. 10.1002/ajmg.a.61591
- By:
- Publication type:
- Article
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 949, doi. 10.1002/ajmg.a.37524
- By:
- Publication type:
- Article
Prognostic value of chromosomal imbalances, gene mutations, and BAP1 expression in uveal melanoma.
- Published in:
- Genes, Chromosomes & Cancer, 2018, v. 57, n. 8, p. 387, doi. 10.1002/gcc.22541
- By:
- Publication type:
- Article
The Genoa experience of prenatal diagnosis in NF1.
- Published in:
- 2000
- By:
- Publication type:
- journal article
TACI variants as underlying condition in autoimmune neutropenia: Description of four cases.
- Published in:
- American Journal of Hematology, 2022, v. 97, n. 9, p. E328, doi. 10.1002/ajh.26625
- By:
- Publication type:
- Article
The human amniotic fluid stem cell secretome effectively counteracts doxorubicin-induced cardiotoxicity.
- Published in:
- Scientific Reports, 2016, p. 29994, doi. 10.1038/srep29994
- By:
- Publication type:
- Article
Phorbol diester 12-O-tetradecanoylphorbol 13-acetate (TPA) up-regulates the expression of estrogen receptors in human THP-1 leukemia cells.
- Published in:
- Journal of Cellular Biochemistry, 2001, v. 83, n. 3, p. 390, doi. 10.1002/jcb.1237
- By:
- Publication type:
- Article
Common conditions of use elements. Atomic concepts for consistent and effective information governance.
- Published in:
- Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-03279-z
- By:
- Publication type:
- Article
VP103 Health Technology Assessment Of Genetic Tests For Cystic Fibrosis Carrier Screening In Italy.
- Published in:
- 2017
- By:
- Publication type:
- Abstract
The Human Fetal and Adult Stem Cell Secretome Can Exert Cardioprotective Paracrine Effects against Cardiotoxicity and Oxidative Stress from Cancer Treatment.
- Published in:
- Cancers, 2021, v. 13, n. 15, p. 3729, doi. 10.3390/cancers13153729
- By:
- Publication type:
- Article
Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma.
- Published in:
- Cancers, 2019, v. 11, n. 11, p. 1688, doi. 10.3390/cancers11111688
- By:
- Publication type:
- Article
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 633, doi. 10.1038/ejhg.2013.214
- By:
- Publication type:
- Article
Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 9, p. 972, doi. 10.1038/ejhg.2010.64
- By:
- Publication type:
- Article
EuroGentest patient information leaflets: a free resource available in over 20 languages.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1230, doi. 10.1038/sj.ejhg.5201908
- By:
- Publication type:
- Article
Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1203, doi. 10.1038/sj.ejhg.5201927
- By:
- Publication type:
- Article
Consent and confidentiality: Consent and Confidentiality in Genetic Practice.
- Published in:
- 2007
- By:
- Publication type:
- Book Review
An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1012, doi. 10.1038/sj.ejhg.5201874
- By:
- Publication type:
- Article
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 588, doi. 10.1038/sj.ejhg.5201598
- By:
- Publication type:
- Article
Provision of genetic services in Europe: current practices and issues.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, p. S13, doi. 10.1038/sj.ejhg.5201111
- By:
- Publication type:
- Article
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.
- Published in:
- Molecules, 2024, v. 29, n. 2, p. 453, doi. 10.3390/molecules29020453
- By:
- Publication type:
- Article
Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Genotype/Phenotype Correlations of Males Affected by Simpson-Golabi-Behmel Syndrome with GPC3 Gene Mutations: Patient Report and Review of the Literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2003, v. 16, n. 2, p. 225, doi. 10.1515/jpem.2003.16.2.225
- By:
- Publication type:
- Article
Reverse-transcriptase polymerase chain reaction of the maspin gene in the detection of bone marrow breast carcinoma cell contamination.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 9, p. 1610, doi. 10.1007/s00415-011-5979-z
- By:
- Publication type:
- Article
Diagnostic yield and predictive value on left ventricular remodelling of genetic testing in dilated cardiomyopathy.
- Published in:
- ESC Heart Failure, 2023, v. 10, n. 4, p. 2745, doi. 10.1002/ehf2.14395
- By:
- Publication type:
- Article
Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome.
- Published in:
- Diseases, 2024, v. 12, n. 1, p. 9, doi. 10.3390/diseases12010009
- By:
- Publication type:
- Article