日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Recessive congenital methemoglobinemia: a systematic review of reported cases

隐性先天性高铁血红蛋白血症:已报道病例的系统性综述

Neven, Julie; Beyltjens, Tessi; Meuwissen, Beyltjens E C; De Bisschop, Barbara; Bouziotis, Jason; van den Akker, Machiel

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations

成人期迈尔综合征:临床变异性和新出现的基因型-表型相关性

Vanbelleghem, Eva; Van Damme, Tim; Beyens, Aude; Symoens, Sofie; Claes, Kathleen; De Backer, Julie; Meerschaut, Ilse; Vanommeslaeghe, Floris; Delanghe, Sigurd E; van den Ende, Jenneke; Beyltjens, Tessi; Scimone, Eleanor R; Lindsay, Mark E; Schimmenti, Lisa A; Hinze, Alicia M; Dunn, Emily; Gomez-Ospina, Natalia; Vandernoot, Isabelle; Delguste, Thomas; Coppens, Sandra; Cormier-Daire, Valérie; Tartaglia, Marco; Garavelli, Livia; Shieh, Joseph; Demir, Şenol; Arslan Ateş, Esra; Zenker, Martin; Rohanizadegan, Mersedeh; Rivera-Cruz, Greysha; Douzgou, Sofia; Lin, Angela E; Callewaert, Bert

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

涉及 CBFB 的杂合致病变异会导致一种类似于锁骨颅骨发育不良的新型骨骼疾病。

Beyltjens, Tessi; Boudin, Eveline; Revencu, Nicole; Boeckx, Nele; Bertrand, Miriam; Schütz, Leon; Haack, Tobias B; Weber, Axel; Biliouri, Eleni; Vinkšel, Mateja; Zagožen, Anja; Peterlin, Borut; Pai, Shashidhar; Telegrafi, Aida; Henderson, Lindsay B; Ells, Courtney; Turner, Lesley; Wuyts, Wim; Van Hul, Wim; Hendrickx, Gretl; Mortier, Geert R