Výsledky vyhľadávania - "HARVENGT, Julie"

Monogenic etiologies in a cohort of early onset obesity: a real-world experience from Belgium.

Autori: Harvengt, Julie Hannon, Muriel Palmeira, Leonor a ďalší

Zdroj: Frontiers in Endocrinology; 2025, p1-11, 11p

Predmety: OBESITY genetics, GENETIC testing, PHENOTYPES, NEUROLOGIC manifestations of general diseases, LEPTIN receptors, DIAGNOSIS, ADOLESCENT obesity

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.

Autori: Lumaka, Aimé Fasquelle, Corinne Debray, Francois-Guillaume a ďalší

Zdroj: International Journal of Molecular Sciences; Feb2023, Vol. 24 Issue 4, p4003, 16p

Predmety: CRITICALLY ill children, WHOLE genome sequencing, NEONATAL intensive care units, CHILD patients, CLINICAL drug trials

Geografický termín: BELGIUM

Korporácia: UNIVERSITE de Liege

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Autori: Rice, Gillian I. Park, Sehoon Gavazzi, Francesco a ďalší

Prispievatelia: Rice, Gillian I. Park, Sehoon Gavazzi, Francesco a ďalší

Predmety: Aicardi-Goutieres syndrome, IFIH1, MDA5, Singleton Merten syndrome, type I interferonopathy, function mutation, disease

Popis súboru: application/pdf

Relation: info:eu-repo/grantAgreement/EC/H2020/786142; https://hdl.handle.net/10810/42692

Dostupnosť: https://hdl.handle.net/10810/42692
https://doi.org/10.1002/humu.23975

Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.

Autori: Warnier, Hélène Barrea, Christophe Bethlen, Sarah a ďalší

Zdroj: Orphanet Journal of Rare Diseases; 4/23/2022, Vol. 17 Issue 1, p1-12, 12p

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Autori: Pediatría Pediatria Rice, Gillian I. a ďalší

Témy: Aicardi-Goutieres syndrome, IFIH1, MDA5, Singleton Merten syndrome, type I interferonopathy, function mutation, disease, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10810/42692
https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23975
1059-7794
1098-1004
https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23975
info:eu-repo/grantAgreement/EC/H2020/786142

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.

Autori: Boemer, François Josse, Claire Luis, Géraldine a ďalší

Zdroj: International Journal of Molecular Sciences; Feb2022, Vol. 23 Issue 4, p2253, 1p

Predmety: ESSENTIAL amino acids, BRAIN diseases, AUTISM spectrum disorders, NEWBORN screening, PEOPLE with epilepsy, CEREBROSPINAL fluid

ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis.

Autori: Harvengt, Julie Gernay, Caroline Mastouri, Meriem a ďalší

Zdroj: Journal of Clinical Endocrinology & Metabolism; Jul2020, Vol. 105 Issue 7, p2119-2131, 13p

HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome.

Autori: Harvengt, J. Lumaka, A. Fasquelle, C. a ďalší

Zdroj: Frontiers in Genetics; 3/22/2023, Vol. 14, p01-06, 6p

Predmety: WEIGHT gain, SYNDROMES, EYE abnormalities, EXCEPTIONAL children, DYSAUTONOMIA, EYE movements

ESPE 2024 Abstracts.

Zdroj: Hormone Research in Paediatrics; 2024 Suppl 3, Vol. 97, p1-738, 737p

Predmety: PRECOCIOUS puberty, PUBERTY, BODY composition, GENETICS, SMALL for gestational age, REGULATION of body weight, DIAGNOSIS, ESTRUS, CILIA & ciliary motion

Triiodothyronine-predominant Graves' disease in childhood: detection and therapeutic implications.

Autori: Harvengt, Julie Boizeau, Priscilla Chevenne, Didier a ďalší

Zdroj: European Journal of Endocrinology; Jun2015, Vol. 172 Issue 6, p715-723, 9p

Predmety: GRAVES' disease, TRIIODOTHYRONINE, THYROID antagonists, THYROTROPIN receptors, HYPERTHYROIDISM, AUTOANTIBODIES, CHILDREN'S health, THERAPEUTICS