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Health and Quality of Life Outcomes|August 15, 2024
Converting PROMIS®-29 v2.0 profile data to SF-36 physical and mental component summary scores in patients with cardiovascular disordersGregor Liegl, Felix H Fischer, Carl N Martin, et al.American Journal of Medical Genetics. Part A|November 27, 2019
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delayJulián Nevado, Karen S Ho, Marcella Zollino, et al.BMJ Neurology Open|July 6, 2026
Stroke and its consequences: protocol and pilot data of the observational Berlin Long-term Observation of Vascular Events (BeLOVE) stroke stratumChristian H Nolte, Joachim E Weber, Michael Ahmadi, et al.Frontiers in Genetics|May 2, 2022
Variability in Phelan-McDermid Syndrome in a Cohort of 210 IndividualsJulián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, et al.Neuromuscular Disorders : NMD|December 13, 2023
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registryRafael Jenaro Martinez-Marin, David Reyes-Leiva, Andrés Nascimento, et al.Journal of Medical Genetics|November 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsElena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, et al.Pageof 20