Suchergebnisse - "Rare disease"

PubPharm (8.247)

11

Drug Repurposing Patent Applications October-December 2023

enthalten in: Assay and drug development technologies | 2024

von Mucke, H.

12

Needs and Experiences With Health Care Providers of Adult Rare Disease Patients and Caregivers of People With Rare Diseases : Protocol for a Qualitative Study

enthalten in: JMIR research protocols | 2024

von Černe, T. | Turk, E. | Mirosevic, S. | +1

13

Partial Orphan Cancer Drugs : US Food and Drug Administration Approval, Clinical Benefit, Trials, Epidemiology, Price, Beneficiaries, and Spending

enthalten in: Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research | 2024

von Michaeli, T. | Michaeli, D.

14

An AlphaFold Structure Analysis of COQ2 as Key a Component of the Coenzyme Q Synthesis Complex

enthalten in: Antioxidants (Basel, Switzerland) | 2024

von Vargas-Pérez, M. | Devos, D. | López-Lluch, G.

15

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome

enthalten in: American journal of medical genetics. Part A | 2024

von Farris, J. | Khanna, C. | Smadbeck, J. | +14

16

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Seaby, E. | Leggatt, G. | Cheng, G. | +68

UpdateOf: medRxiv. 2023 Mar 30;:. - PMID 37034701

17

Diagnostic delay in monogenic disease : A scoping review

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Tinker, R. | Fisher, M. | Gimeno, A. | +4

18

A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease

enthalten in: Orphanet journal of rare diseases | 2024

von Al-Attar, M. | Butterworth, S. | McKay, L.

19

A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease

enthalten in: Orphanet journal of rare diseases | 2024

von Al-Attar, M. | Butterworth, S. | McKay, L.

20

SARS-COV2 Pandemic Serosurvey in a Rare Disease Population : SARS-COV2 Pandemic Serosurvey in a Rare Disease Population

enthalten in: ClinicalTrials.gov | 2024