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American Journal of Human Genetics|January 3, 2017
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm DefectsTamara Paff, Niki T Loges, Isabella Aprea, et al.
Human Mutation|August 7, 2015
SMAD2 Mutations Are Associated with Arterial Aneurysms and DissectionsDimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, et al.
Advances in Therapy|May 23, 2026
Transition Care for Young People with Rare Bone and Mineral Conditions: A Scoping ReviewSílvia Coutinho, Lise Sofie Jensen, Thilini H Gamage, et al.
Frontiers in Endocrinology|September 25, 2020
When Limb Surgery Has Become the Only Life-Saving Therapy in FOP: A Case Report and Systematic Review of the LiteratureEsmée Botman, Sanne Treurniet, Wouter D Lubbers, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Plos Genetics|June 14, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Human Gene Therapy|May 3, 2022
Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and ObstaclesElisabeth M W Eekhoff, Ruben D de Ruiter, Bernard J Smilde, et al.
Neurogenetics|August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Nature Genetics|January 11, 2011
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritisIngrid M B H van de Laar, Rogier A Oldenburg, Gerard Pals, et al.
Frontiers in Endocrinology|December 3, 2021
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz WorkshopRuben D de Ruiter, Bernard J Smilde, Gerard Pals, et al.
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