Suchergebnisse - "Diaz, George A"

PubPharm (203)

1

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

enthalten in: bioRxiv.org | 2024

von Abul-Husn, N. | Marathe, P. | Kelly, N. | +24

2

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

enthalten in: Molecular genetics & genomic medicine | 2024

von Sen, K. | Izem, R. | Long, Y. | +31

3

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

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

von Posset, R. | Garbade, S. | Gleich, F. | +58

4

Patient and Provider Experiences and Views on the Use of Telehealth in Genetics Clinics in Response to the COVID-19 Pandemic

enthalten in: Telemedicine journal and e-health : the official journal of the American Telemedicine Association | 2024

von Martinez, J. | Zinberg, R. | Diaz, G. | +1

5

Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE) : a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial

enthalten in: EClinicalMedicine | 2024

von Russo, R. | Gasperini, S. | Bubb, G. | +5

6

Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders

enthalten in: Pediatric research | 2023

von Lichter-Konecki, U. | Sanz, J. | Urea Cycle Disorders Consortium | +25

7

The NYCKidSeq randomized controlled trial : Impact of GUÍA digitally enhanced genetic results disclosure in diverse families

enthalten in: American journal of human genetics | 2023

von Suckiel, S. | Kelly, N. | Odgis, J. | +20

UpdateOf: medRxiv. 2023 Jul 07;:. - PMID 37461450

8

Efficacy and safety of a synthetic biotic for treatment of phenylketonuria : a phase 2 clinical trial

enthalten in: Nature metabolism | 2023

von Vockley, J. | Sondheimer, N. | Puurunen, M. | +15

9

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

enthalten in: Annals of neurology | 2023

von McCormick, E. | Keller, K. | Taylor, J. | +45

10

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Abul-Husn, N. | Marathe, P. | Kelly, N. | +24

UpdateOf: medRxiv. 2023 Mar 20;:. - PMID 36993157

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