Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions

Annotating rare variants: a challenge that has not been completely resolved

[Plasma from heparinate lithium tube with separator gel allows measurement of a large panel of automated biochemical and hormonal parameters]

Detection Dog Survey Detects African Wild Dog Presence and a Shared Marking Site

Biallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts

Screening of exotic banana accessions for their resistance to fusarium wilt race 1 and tropical race 4 in India

Comparing COVID-19 disease severity in patients with rheumatic and inflammatory diseases between the first and the subsequent waves

Product level dataset on embodied human appropriation of net primary production

COVID-19 presentation and outcomes in patients with inflammatory rheumatic and musculoskeletal diseases receiving IL6-receptor antagonists prior to SARS-CoV-2 infection

Factors associated with COVID-19 severity in patients with spondyloarthritis: Results of the French RMD COVID-19 cohort

SARS-CoV-2 infection after vaccination in patients with inflammatory rheumatic and musculoskeletal diseases

Embodied HANPP of feed and animal products: Tracing pressure on ecosystems along trilateral livestock supply chains 1986-2013

Hybridization, missing wild ancestors and the domestication of cultivated diploid bananas

Estrogen Receptor α Inactivation in 2 Sisters: Different Phenotypic Severities for the Same Pathogenic Variant

State of ex situ conservation of landrace groups of 25 major crops

Detection of Banana Mild Mosaic Virus in Musa In Vitro Plants: High-Throughput Sequencing Presents Higher Diagnostic Sensitivity Than (IC)-RT-PCR and Identifies a New Betaflexiviridae Species

3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting

Case of reactive sacroiliitis possibly induced by an mRNA coronavirus disease vaccine

Unravelling the complex story of intergenomic recombination in ABB allotriploid bananas

The horizontal transfer of Pseudomonas aeruginosa PA14 ICE PAPI-1 is controlled by a transcriptional triad between TprA, NdpA2 and MvaT

Deep RNA-seq analysis reveals key responding aspects of wild banana relative resistance to Fusarium oxysporum f. sp. cubense tropical race 4

Identification of Divergent Isolates of Banana Mild Mosaic Virus and Development of a New Diagnostic Primer to Improve Detection

Coatomer-associated protein subunit alpha syndrome: abnormal trafficking between the Golgi complex and the endoplasmic reticulum

Effect of paleopolyploidy and allopolyploidy on gene expression in banana

Metabolite profiling characterises chemotypes of Musa diploids and triploids at juvenile and pre-flowering growth stages

Factors limiting adherence to antiepileptic treatment: A French online patient survey

Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans

Dead space analysis at different levels of positive end-expiratory pressure in acute respiratory distress syndrome patients

Persistent pathways after lung radiofrequency ablation as a risk factor of drain placement

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

Rabconnectin-3α is required for the morphological maturation of GnRH neurons and kisspeptin responsiveness

D-Serine and Glycine Differentially Control Neurotransmission during Visual Cortex Critical Period

Traditional Banana Diversity in Oceania: An Endangered Heritage

IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty

Evaluation of rheumatoid arthritis-associated interstitial lung disease in patients treated with JAK inhibitors: a MAJIK-SFR cohort study

Factors associated with disease flare following SARS-CoV-2 vaccination in people with inflammatory rheumatic and musculoskeletal diseases: results from the physician-reported EULAR Coronavirus Vaccine (COVAX) Registry

Safety of vaccination against SARS-CoV-2 in people with rheumatic and musculoskeletal diseases: results from the EULAR Coronavirus Vaccine (COVAX) physician-reported registry

Response to Letter to the Editor from De Zegher and Ibanes: On the rising incidence of early breast development

Prevalence and course of thyroid dysfunction in neonates at high risk of Graves' disease or with non-autoimmune hyperthyroidism

Prevalence and clinical characteristics of isolated forms of central precocious puberty: a cohort study at a single academic center

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

Evaluation of Resistance of Banana Genotypes with AAB Genome to Fusarium Wilt Tropical Race 4 in China

A chromosome-level reference genome of Ensete glaucum gives insight into diversity and chromosomal and repetitive sequence evolution in the Musaceae

Three New Genome Assemblies Support a Rapid Radiation in Musa acuminata (Wild Banana)

Whole genome sequencing of a banana wild relative Musa itinerans provides insights into lineage-specific diversification of the Musa genus

A Genome-Wide Association Study on the Seedless Phenotype in Banana (Musa spp.) Reveals the Potential of a Selected Panel to Detect Candidate Genes in a Vegetatively Propagated Crop

Peri-operative oral caffeine does not prevent postoperative atrial fibrillation after heart valve surgery with cardiopulmonary bypass: A randomised controlled clinical trial

Alterations of anti-SARS-CoV-2 immune response in children vary according to the nature of their immunosuppression

Safety of vaccination against SARS-CoV-2 in people with rheumatic and musculoskeletal diseases: results from the EULAR Coronavirus Vaccine (COVAX) physician-reported registry

PATIENT-REPORTED OUTCOMES FOR USE OF SILVERSPLINTS IN OSTEOARTHRITIS OF THE HAND

Evaluation of the impact of concomitant fibromyalgia on TNF alpha blockers' effectiveness in axial spondyloarthritis: results of a prospective, multicentre study