:: Library Catalog

Εξώφυλλο

Αποθηκεύτηκε σε:

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριος συγγραφέας:	Li, Qun
Μορφή:	Recurso digital
Γλώσσα:
Έκδοση:	Zenodo 2025
Θέματα:	Mutation COSMIC 1000 genome
Διαθέσιμο Online:	https://doi.org/10.5281/zenodo.16925907
Ετικέτες:	Προσθήκη ετικέτας Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!

Παρόμοια τεκμήρια

Re-evaluando la Intención de Uso de un Procedimiento de Medición basado en COSMIC-FFP
από: Nelly Condori-Fernández
Έκδοση: (2006)

Ultra-high-energy cosmic ray acceleration by magnetic reconnection in newborn pulsars
από: Alex Lazarian
Έκδοση: (2000)

Response of a Balloon-Borne Omnidirectional Detector to the Atmospheric Secondary Charged Cosmic Radiation at a place of 11.5 GV Geomagnetic Cut-Off
από: I. N. Azcárate
Έκδοση: (2001)

CMB (and other) challenges to BBN
από: Gary Steigman
Έκδοση: (2002)

Cosmic rays and their radiative processes in numerical cosmology
από: Francesco Miniati
Έκδοση: (2000)

Genomics
Έκδοση: (2022)

Standards in Genomic Sciences
Έκδοση: (2015)

International Journal of Genomics
Έκδοση: (2013)

Mutation Spectrum of Hemoglobinopathies in Tunisia
από: Imen Moumni, κ.ά.
Έκδοση: (2026)

Clinically Translatable Mutation‐Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study
από: Fan Yang, κ.ά.
Έκδοση: (2026)

Genomics Communications
Έκδοση: (2025)

ALPL Mutations With Dominant‐Negative Effect in Infantile Hypophosphatasia Monozygotic Twins
από: Luna Hao, κ.ά.
Έκδοση: (2026)

A Forced Geometric Invariant for Discrete–Continuum Compatibility (COSMIC-273: Paper 1)
από: France, Josephine
Έκδοση: (2026)

BMC Genomics
Έκδοση: (2003)

Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance–Horan Syndrome
από: Li Li, κ.ά.
Έκδοση: (2026)

A Novel Germline MUTYH Mutation (p.W156∗) in High‐Grade Astrocytoma, IDH Mutant
από: Lulu Zhang, κ.ά.
Έκδοση: (2025)

Identification of a Germline XAF1 Mutation in Patients With Gastrointestinal Cancers
από: Guan-Xin Xu, κ.ά.
Έκδοση: (2026)

Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest
από: Ruiqi Li, κ.ά.
Έκδοση: (2024)

Phenotypic Characterization of ALS‐Causing SOD1 Mutations Affecting Polypeptide Length
από: Mariusz Berdyński, κ.ά.
Έκδοση: (2025)

Human Genomics
Έκδοση: (2012)

Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNAAsp Mutation
από: Yu Ding, κ.ά.
Έκδοση: (2025)

Dilated Cardiomyopathy May Be Associated With a Novel Mitochondrial tRNASer(AGY) Mutation
από: Yu Ding, κ.ά.
Έκδοση: (2025)

A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population
από: Nancy S. Younis, κ.ά.
Έκδοση: (2026)

Cell Genomics
Έκδοση: (2022)

Periostin Safeguards EGFR‐Driven Genomic Instability and Sustains the Immune‐Suppressive Niche in Glioblastoma
από: Hongjun Liu, κ.ά.
Έκδοση: (2026)

Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review
από: Jun Kido, κ.ά.
Έκδοση: (2025)

BMC Genomic Data
Έκδοση: (2022)

Genomic Structural Equation Modeling Provides an Initial View of the Genetic Architecture Related to Type 1 Gaucher Disease
από: Shijie Ren, κ.ά.
Έκδοση: (2026)

Integrated Genomic and Functional Characterization of Palmitoylation in Clear Cell Renal Cell Carcinoma
από: Dong Zhang, κ.ά.
Έκδοση: (2025)

In silico Analysis of CHD4 Mutations Reveals Domain‐Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases
από: Apolonia Novillo, κ.ά.
Έκδοση: (2026)

Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss
από: Stefan Rentas, κ.ά.
Έκδοση: (2025)

A Tertiary Lymphoid Structure–Derived Prognostic Signature Integrates Immune Microenvironment and Mutational Landscapes in Clear Cell Renal Cell Carcinoma
από: Xuanyu Zhou, κ.ά.
Έκδοση: (2026)

CENPA as a Genome Stability–Associated Biomarker in Hepatocellular Carcinoma: Multiomics Analysis and Experimental Validation
από: Haichao Shi, κ.ά.
Έκδοση: (2026)

Figure 2 from: Liu T, Huang K, Xu A, Lü Z, Gong L, Liu J, Tang M, Liu L (2025) Genome sequencing provides novel insights into diadromous migration adaptations in the roughskin sculpin, Trachidermus fasciatus (Scorpaeniformes, Cottidae). ZooKeys 1256: 293-316. https://doi.org/10.3897/zookeys.1256.153772
από: Liu, Tianwei, κ.ά.
Έκδοση: (2025)

Optical Genomic Mapping and Next‐Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting PARN Gene in Dyskeratosis Congenita
από: Qiaoyu Cao, κ.ά.
Έκδοση: (2025)

Genome‐Wide Cross‐Trait Analysis Dissects the Shared Genetic Architecture Between Type 2 Diabetes Mellitus and Metabolic Dysfunction–Associated Steatotic Liver Disease
από: Zijun Zhu, κ.ά.
Έκδοση: (2026)

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program
από: Rin Khang, κ.ά.
Έκδοση: (2025)

Disentangling Links Between Lung Cancer and Infectious Pneumonia via Real‐World Data and Integrative Genomics
από: Yi-Fei Diao, κ.ά.
Έκδοση: (2026)

Multiomics and Genomic Alteration Characterization Identifies VDAC1 as a Mitochondrial‐Associated Biomarker in Pancreatic Cancer
από: Wanliang Sun, κ.ά.
Έκδοση: (2026)

Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review
από: Jian Ma, κ.ά.
Έκδοση: (2024)