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"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".

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Title: "Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".
Authors: Rijckmans E; Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels, Belgium. Ellen.rijckmans@uzbrussel.be.; Research Group Genetics, Reproduction and Development (GRAD), Vrije Universiteit Brussel, Brussels, Belgium. Ellen.rijckmans@uzbrussel.be.; Center for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium. Ellen.rijckmans@uzbrussel.be., De Strooper L; Huisartsgeneeskunde, Vrije Universiteit Brussel, Brussels, Belgium., Keymolen K; Research Group Genetics, Reproduction and Development (GRAD), Vrije Universiteit Brussel, Brussels, Belgium.; Center for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium., Rosenblum J; Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Translational Neurosciences, University of Antwerp, Antwerp, Belgium., Loeys B; Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Meuwissen M; Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Jansen AC; Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Pediatric Neurology Unit, Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium., Stouffs K; Research Group Genetics, Reproduction and Development (GRAD), Vrije Universiteit Brussel, Brussels, Belgium.; Molecular Biology Laboratory, Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
Source: Acta neurologica Belgica [Acta Neurol Belg] 2025 Oct; Vol. 125 (5), pp. 1347-1356. Date of Electronic Publication: 2025 Aug 04.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Rijckmans+E%22">Rijckmans E</searchLink>; Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels, Belgium. Ellen.rijckmans@uzbrussel.be.; Research Group Genetics, Reproduction and Development (GRAD), Vrije Universiteit Brussel, Brussels, Belgium. Ellen.rijckmans@uzbrussel.be.; Center for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium. Ellen.rijckmans@uzbrussel.be.<br /><searchLink fieldCode="AU" term="%22De+Strooper+L%22">De Strooper L</searchLink>; Huisartsgeneeskunde, Vrije Universiteit Brussel, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Keymolen+K%22">Keymolen K</searchLink>; Research Group Genetics, Reproduction and Development (GRAD), Vrije Universiteit Brussel, Brussels, Belgium.; Center for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Rosenblum+J%22">Rosenblum J</searchLink>; Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Translational Neurosciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Loeys+B%22">Loeys B</searchLink>; Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Meuwissen+M%22">Meuwissen M</searchLink>; Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Jansen+AC%22">Jansen AC</searchLink>; Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Pediatric Neurology Unit, Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Stouffs+K%22">Stouffs K</searchLink>; Research Group Genetics, Reproduction and Development (GRAD), Vrije Universiteit Brussel, Brussels, Belgium.; Molecular Biology Laboratory, Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
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  Data: <searchLink fieldCode="JN" term="%220247035%22">Acta neurologica Belgica</searchLink> [Acta Neurol Belg] 2025 Oct; Vol. 125 (5), pp. 1347-1356. <i>Date of Electronic Publication: </i>2025 Aug 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Italy <i>NLM ID: </i>0247035 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2240-2993 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203009009%22">03009009 </searchLink><i>NLM ISO Abbreviation: </i>Acta Neurol Belg <i>Subsets: </i>MEDLINE
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              Text: 2025 Oct
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