Buchumschlag

Personalised Medicine in Cancer

Fuente: Zenodo

Gespeichert in:

Bibliographische Detailangaben
Hauptverfasser:	Moura Vicente, Astrid, Rasga, Celia Maria, Cardoso, Maria Luis, De Nicolo, Arcangela, Nikitara, Katerina, Nomikou, Maria, Krajc, Mateja, Hotujec, Simona, Strojnik, Ksenija, Montserrat-Moreno, Mireia, Morel Chamoun, Zeina, De Angelis, Roberta
Format:	Recurso digital
Sprache:	Englisch
Veröffentlicht:	Zenodo 2025
Schlagworte:	Can.Heal EU4Health Cancer Genomics Personalized medicine Personalised Medicine Public Health Genomics Genomics Genetics DNA Genetic Testing Hereditary Cancer Tumour Profiling Precision Medicine Germline Variants Somatic Variants Genome Health Literacy Cancer Risk Cancer Prevention Gene-Environment Interaction Oncogenomics Oncogenetics Genomic Medicine
Online-Zugang:	Acceder al recurso
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge

GVAtlas: Pioneering Genomic Variant Analysis and Visualization for SARS CoV 2 and Beyond
von: Tahir, Bhatti, et al.
Veröffentlicht: (2025)

GenomeIndia: Whole genome sequencing variant calling code
von: Kahali, Bratati, et al.
Veröffentlicht: (2026)

De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss‐of‐Function Variant Resolved by RNA Analysis
von: Daria Akimova, et al.
Veröffentlicht: (2025)

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System
von: Nadia Carstens, et al.
Veröffentlicht: (2026)

Mexican patient with Ellis‐van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion
von: Luis Felipe León‐Madero, et al.
Veröffentlicht: (2024)

Identification and Structural Characterization of a Novel COL3A1 Gene Duplication in a Family With Vascular Ehlers–Danlos Syndrome
von: Gianmaria Miolo, et al.
Veröffentlicht: (2025)

No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant
von: Irene Capelli, et al.
Veröffentlicht: (2024)

A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report
von: Zahra Anvar, et al.
Veröffentlicht: (2025)

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype
von: Heather Seymour, et al.
Veröffentlicht: (2024)

Mother's smoking habits affects IL10 methylation but not asthma in Ecuadorian children
von: Cristina Ochoa‐Avilés, et al.
Veröffentlicht: (2024)

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses
von: Yutaka Furuta, et al.
Veröffentlicht: (2025)

Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature
von: Naser Gilani, et al.
Veröffentlicht: (2024)

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination
von: Si Huang, et al.
Veröffentlicht: (2026)

Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants
von: Yingying Li, et al.
Veröffentlicht: (2024)

Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders
von: Wuming Xie, et al.
Veröffentlicht: (2025)

Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3
von: Hai Xu, et al.
Veröffentlicht: (2024)

Historical Control Analysis Demonstrates Greater Long‐Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease
von: Dominique P. Germain, et al.
Veröffentlicht: (2025)

Correction to “Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I”
Veröffentlicht: (2024)

The Functions and Implications of MicroRNAs in Premature Ovarian Insufficiency
von: Hui Gao, et al.
Veröffentlicht: (2025)

Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases
von: Yan‐Fang Li, et al.
Veröffentlicht: (2026)

A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review
von: Ying Yang, et al.
Veröffentlicht: (2025)

Pharmacogenomic Calling From Whole‐Exome Sequencing in the Taiwanese Population—A Real‐World Experience
von: Hsu‐Heng Lin, et al.
Veröffentlicht: (2026)

SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development
von: Casey J. Brewer, et al.
Veröffentlicht: (2024)

Multicolor melting curve analysis discloses high carrier frequency of hearing loss‐associated variants among neonates in Jiangsu province
von: Yi Liu, et al.
Veröffentlicht: (2024)

A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene
von: Badreddine Elmakhzen, et al.
Veröffentlicht: (2025)

Issue Information
Veröffentlicht: (2025)

Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant
von: Mohammad Reza Mirinezhad, et al.
Veröffentlicht: (2025)

Issue Information
Veröffentlicht: (2024)

Social media use by patients with hypermobile Ehlers–Danlos syndrome
von: Colin M. E. Halverson, et al.
Veröffentlicht: (2024)

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
von: Ying Chen, et al.
Veröffentlicht: (2024)

Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria
von: Jingfei Zhang, et al.
Veröffentlicht: (2025)

A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review
von: Ming Liu, et al.
Veröffentlicht: (2024)

The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling
von: Malek Bouassida, et al.
Veröffentlicht: (2024)

Clinical and Genetic Analysis of SMARCC2 ‐Related Diseases in Three Chinese Patients
von: Shan Ou, et al.
Veröffentlicht: (2026)

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons
von: Kosuke Taniguchi, et al.
Veröffentlicht: (2025)

Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency
von: Xiao‐Liang Xing, et al.
Veröffentlicht: (2024)

Clinical approach for managing patients with unexpected CDH1 mutations: A case report
von: Yago Garitaonaindia, et al.
Veröffentlicht: (2024)

Hope, but never expect? Comparing parents' pre‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child
von: Candice Cornelis, et al.
Veröffentlicht: (2024)

A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus
von: Min Wen, et al.
Veröffentlicht: (2024)

Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation
von: Mathis Lepage, et al.
Veröffentlicht: (2025)