Marie Louise Falkenberg Smeland

Overlege
ved Barne- og ungdomsklinikken ved Universitetssykehuset Nord-Norge HF
Universitetslektor
ved Institutt for klinisk medisin ved UiT Norges arktiske universitet

Resultater Resultater

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami mfl.. 2024, Genome Medicine. MAYO, TYKS, GASLINI, EPFL, UNN, UL, EMC, UoU, TYSKLAND, NEDERLAND, BCoM, GGC, USA, UMCN, UZ, UdSdT, UvL, UdSdP, FRANKRIKE, UdSdS, MEXICO, UdB, UKM, UKCLJ, UdSdG, UdL, VUVitenskapelig artikkel

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L; Liang, Robin Amanda; Abdel-Hamid, Mohamed S; Sultan, Tipu; Barøy, Tuva; Van Ghelue, Marijke mfl.. 2024, Brain. UIT, USA, SAUDIARAB, PAKISTAN, STORBRITAN, UMC, GASLINI, OUS, INNLANDET, UMG, UDEM, UNI, UNN, UdSdG, NEDERLAND, NRC, WUSL, UCLVitenskapelig artikkel

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Mah-Som, Annelise Y.; Daw, Jil; Huynh, Diana; Wu, Mengcheng; Creekmore, Benjamin C.; Burns, William; Skinner, Steven A.; Holla, Øystein Lunde; Smeland, Marie Louise Falkenberg; Planes, Marc mfl.. 2023, American Journal of Human Genetics. SORBONNE, UIT, SCRI, GGC, MEDUNIGRAZ, USA, TELEMARK, FRANKRIKE, SEA, MSU, HMS, PENN, CIoT, UKHE, UNN, TYSKLAND, UoW, WUSLVitenskapelig artikkel

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Peluso, Francesca; Caraffi, Stefano G; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja mfl.. 2023, Journal of Medical Genetics. PORTUGAL, USA, AUSTRALIA, CANADA, UMCN, DEF, UZ, SDU, UdSdP, NIH, UNIBO, UdSdMeRE, UoM, UNN, UoO, UON, RH, UdF, SVEITS, NEDERLAND, ITALIA, NEWZEALAND, DANMARKVitenskapelig artikkel

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sheppard, Sara E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis mfl.. 2023, Science Advances. NICHD, MAYO, SPANIA, PENN, UoM, UG, UNN, UCHILE, CHOP, EMC, UoU, UoW, GOSH, INSEL, CHU DIJON, WUSL, SORBONNE, USA, UK-ESSEN, CUitCoNY, UMCN, UZ, TELEMARK, STORBRITAN, UMC, MELB, MUR, NIH, UADB, FRANKRIKE, NUoS, MGH, ICREA, CS, CU, UdB, UNIDUISB, STGEORGES, PMU, UdSdF, FAU, LUMCVitenskapelig artikkel

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