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An Orphan Nuclear Receptor Activated by Pregnanes Defines a Novel Steroid Signaling Pathway ⬇️

artículo científico publicado el 9 de enero de 1998

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

artículo científico publicado en 2020

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

artículo científico publicado en 2021

MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid

artículo científico publicado en 2019

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study

artículo científico publicado en 2016

Newborn screening for homocystinurias: recent recommendations versus current practice

artículo científico publicado en 2019

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

artículo científico publicado en 2020

The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients

artículo científico publicado en 2020

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

scientific article published on 28 August 2020

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