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Page 1
De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.
Racine C, Callier P, Touraine R, Vitobello A, Hanna N, Arnaud P, Jondeau G, Boileau C, Thauvin-Robinet C, Creveaux I, Gatinois V, Willems M, Faivre L. Racine C, et al. Among authors: willems m. Am J Med Genet A. 2024 Nov 25:e63923. doi: 10.1002/ajmg.a.63923. Online ahead of print. Am J Med Genet A. 2024. PMID: 39584374
The impact of Charcot-Leyden Crystal protein on mesothelioma chemotherapy: targeting eosinophils for enhanced chemosensitivity.
Willems M, Hamaidia M, Fontaine A, Grégoire M, Halkin L, Vilanova Mañá L, Terres R, Jamakhani M, Deshayes S, Brostaux Y, Heinen V, Louis R, Duysinx B, Jean D, Wasielewski E, Scherpereel A, Blanquart C, Willems L. Willems M, et al. EBioMedicine. 2024 Nov;109:105418. doi: 10.1016/j.ebiom.2024.105418. Epub 2024 Oct 30. EBioMedicine. 2024. PMID: 39471751 Free PMC article.
Impact of serum neurofilament light on clinical decisions in a tertiary multiple sclerosis clinic.
van Lierop ZY, Wessels MH, Lekranty WM, Moraal B, Hof SN, Hogenboom L, de Jong BA, Meijs N, Mensing LA, van Oosten BW, Sol N, van Kempen ZL, Vermunt L, Willems MJ, Strijbis EM, Uitdehaag BM, Killestein J, Teunissen CE. van Lierop ZY, et al. Among authors: willems mj. Mult Scler. 2024 Nov;30(13):1620-1629. doi: 10.1177/13524585241277044. Epub 2024 Oct 17. Mult Scler. 2024. PMID: 39420574 Free PMC article.
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.
Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, Liang C, Morales-Rosado JA, Cohen ASA, Hughes SS, Sullivan BR, Waddell V, van den Boogaard MH, van Jaarsveld RH, van Binsbergen E, van Gassen KL, Wang T, Hiatt SM, Amaral MD, Kelley WV, Zhao J, Feng W, Ren C, Yu Y, Boczek NJ, Ferber MJ, Lahner C, Elliott S, Ruan Y, Mignot C, Keren B, Xie H, Wang X, Popp B, Zweier C, Piard J, Coubes C, Mau-Them FT, Safraou H, Innes AM, Gauthier J, Michaud JL, Koboldt DC, Sylvie O, Willems M, Tan WH, Cogne B, Rieubland C, Braun D, McLean SD, Platzer K, Zacher P, Oppermann H, Evenepoel L, Blanc P, El Khattabi L, Haque N, Dsouza NR, Zimmermann MT, Urrutia R, Klee EW, Shen Y, Du H, Rappaport L, Liu CM, Chen X. Gong M, et al. Among authors: willems m. Am J Hum Genet. 2024 Nov 7;111(11):2392-2410. doi: 10.1016/j.ajhg.2024.09.006. Epub 2024 Oct 16. Am J Hum Genet. 2024. PMID: 39419027 Free PMC article.
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: willems m. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
Abnormal Immune Profile in Individuals with Kabuki Syndrome.
Comel M, Saad N, Sil D, Apparailly F, Willems M, Djouad F, Andrau JC, Lozano C, Genevieve D. Comel M, et al. Among authors: willems m. J Clin Immunol. 2024 Sep 12;45(1):7. doi: 10.1007/s10875-024-01796-5. J Clin Immunol. 2024. PMID: 39264387
461 results