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Expanding the natural history of CASK-related disorders to the prenatal period.
Gafner M, Boltshauser E, D'Abrusco F, Battini R, Romaniello R, D'Arrigo S, Zanni G, Leibovitz Z, Yosovich K, Lerman-Sagie T; Cask Study Group*. Gafner M, et al. Dev Med Child Neurol. 2023 Apr;65(4):544-550. doi: 10.1111/dmcn.15419. Epub 2022 Sep 29. Dev Med Child Neurol. 2023. PMID: 36175354 Free article.
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
Gafner M, Michelson M, Argilli E, Yosovich K, Sherr EH, Parks KC, England EM, Hady-Cohen R, Leibovitz Z, Lev D, Michaeli-Yosef Y, Lerman-Sagie T, Blumkin L. Gafner M, et al. J Hum Genet. 2022 Feb;67(2):95-101. doi: 10.1038/s10038-021-00971-5. Epub 2021 Aug 16. J Hum Genet. 2022. PMID: 34400773 Free PMC article.
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.
Gafner M, Garel C, Leibovitz Z, Valence S, Krajden Haratz K, Oegema R, Mancini GMS, Heron D, Bueltmann E, Burglen L, Rodriguez D, Huisman TAGM, Lequin MH, Arad A, Kidron D, Muqary M, Gindes L, Lev D, Boltshauser E, Lerman-Sagie T. Gafner M, et al. AJNR Am J Neuroradiol. 2023 Mar;44(3):334-340. doi: 10.3174/ajnr.A7805. Epub 2023 Feb 23. AJNR Am J Neuroradiol. 2023. PMID: 36822823 Free PMC article. Review.
25 results