ERD

VARS1 Mutations Associated with Neurodevelopmental Disorder Are Located on A Short Amino Acid Stretch of The Anticodon-B...

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de nov...

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey consid...

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

A Novel Missense Variant in Actin Binding Domain of MYH7 Is Associated With Left Ventricular Noncompaction

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Preparation of Cell-Loaded Microbeads as Stable and Injectable Delivery Platforms for Tissue Engineering

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Optimizing the Personalized Care for the Management of Rectal Cancer: A Consensus Statement

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

A zebrafish model for studying the mechanisms of newborn hyperbilirubinemia and bilirubin-induced neurological damage

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

A new line method; A direct test in spinal muscular atrophy screening for DBS

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

A Novel Missense Variant in Actin Binding Domain of MYH7 Is Associated With Left Ventricular Noncompaction

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Primary antibody deficiencies in Turkey: molecular and clinical aspects

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Betulin Stimulates Osteogenic Differentiation of Human Osteoblasts-Loaded Alginate–Gelatin Microbeads

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency

Project: RareBoost

Updated at: 01-01-2025

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Project acronym RareBoost

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network Internat...

Project: RareBoost

Updated at: 01-01-2025

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Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory E...

Project: RareBoost

Updated at: 31-08-2024

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Project acronym RareBoost

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracrani...

Project: RareBoost

Updated at: 31-08-2024

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5,6-dimethylxanthenone-4-acetic acid (DMXAA), a partial STING agonist, competes for human STING activation

Project: RareBoost

Updated at: 31-08-2024

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Project acronym RareBoost

Neuromuscular disease genetics in under-represented populations: increasing data diversity

Project: RareBoost

Updated at: 31-08-2024

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Project acronym RareBoost

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature

Project: RareBoost

Updated at: 31-08-2024

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Project acronym RareBoost

StemnesScoRe: an R package to estimate the stemness of glioma cancer cells at single-cell resolution

Project: RareBoost

Updated at: 31-08-2024

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Project acronym RareBoost

Biobank Education for Future Physicians: Training Medical Students Through Student Research Association Networks

Project: RareBoost

Updated at: 31-08-2024

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Project acronym RareBoost

Biomarkers of NRF2 signalling: Current status and future challenges

Project: RareBoost

Updated at: 31-08-2024

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Project acronym RareBoost

A microdeletion event at 19q13.43 in IDH-mutant astrocytomas is strongly correlated with MYC overexpression

Project: RareBoost

Updated at: 31-08-2024

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Project acronym RareBoost

Development of a mouse embryonic stem cell model for investigating the functions of the linker histone <scp>H1</scp>‐4

Project: RareBoost

Updated at: 31-08-2024

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Project acronym RareBoost

Human Liver Organoid Models for Assessment of Drug Toxicity at thePreclinical Stage

Project: RareBoost

Updated at: 31-08-2024

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Project acronym RareBoost

A zebrafish model for studying the mechanisms of newborn hyperbilirubinemia and bilirubin-induced neurological damage

Project: RareBoost

Updated at: 31-08-2024

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Project acronym RareBoost

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