Disease Associated Mutations - Neonatal Disorders

Relevant Publications

Contemporary Cytomegalovirus (CMV) Infections in Low-Risk CMV Seronegative Recipients of Solid Organ Transplants From CMV Seronegative Donors (D-/R-): Time to Reexamine Donor CMV Serostatus.

Issue Release: 2025

TOP1 Mutations and Cross-Resistance to Antibody-Drug Conjugates in Patients with Metastatic Breast Cancer.

Issue Release: 2025

Discovery of Titin and Its Role in Heart Function and Disease.

Issue Release: 2025

Comprehensive genomic characterization of early-stage bladder cancer.

Issue Release: 2025

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Issue Release: 2025

Molecular basis of the CYFIP2 and NCKAP1 autism-linked variants in the WAVE regulatory complex.

Issue Release: 2025

Comparing Outcomes Between CPX-351 and Fludarabine-Based Induction in Secondary Acute Myeloid Leukemia in the Real-World Setting: The Prognostic Role of Measurable Residual Disease.

Issue Release: 2025

A crucial active site network of titratable residues guides catalysis and NAD binding in human succinic semialdehyde dehydrogenase.

Issue Release: 2025

FBP1 controls liver cancer evolution from senescent MASH hepatocytes.

Issue Release: 2025

Twenty-Year Survival Analysis of Adeno-Associated Virus Vector Serotype 2-Mediated Gene Therapy to the Central Nervous System for CLN2 Disease.

Issue Release: 2025

Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.

Issue Release: 2025

Targeting common disease pathomechanisms to treat amyotrophic lateral sclerosis.

Issue Release: 2025

An inflammatory state defines a high-risk T-lineage acute lymphoblastic leukemia subgroup.

Issue Release: 2025

Regulation of physiological and pathological condensates by molecular chaperones.

Issue Release: 2025

[Annual therapeutic advances in advanced non-small cell lung cancer in 2024].

Issue Release: 2025

ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.

Issue Release: 2025

Alterations in the inflammatory homeostasis of aging-related cardiac dysfunction and Alzheimer\'s diseases.

Issue Release: 2025

The kinase LRRK2 is required for the physiological function and expression of the glial glutamate transporter EAAT2 (SLC1A2).

Issue Release: 2025

Molecular Profiling Identifies CD49d and CD79b as Predictive Markers for Acquired Acalabrutinib Resistance in Patients With Chronic Lymphocytic Leukemia.

Issue Release: 2025

Presence of liver metastasis correlated with high tumor abundance and indicated adverse prognostic feature in EGFR mutation non-small-cell lung cancer patients.

Issue Release: 2025

What Defines Healthcare Quality in Pediatrics?

What is Frequent Urination in Children?

Why is Attention to Detail Important?

What is Dystrophic Epidermolysis Bullosa?

What are the Symptoms of Exotropia?

How Does Ringworm Appear?

How to Encourage Hygiene Practices?

What are the Common Tools and Techniques Used?

What is Continuous Positive Airway Pressure (CPAP)?

How Does Parental Investment Affect Child Health?

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