المؤلفون: Karen Soldano, Timothy Kuensting, David D. Limbrick, Brooke Sadler, Melanie E. Garrett, Alfons Macaya, Gabe Haller, Andrew T. Hale, Marco Tartaglia, Jackson Wilborn, Stephen R Gannon, Aintzane Urbizu, Giuseppe Zampino, Donald F. Conrad, Norine Voisin, Tychele N. Turner, Gerarda Cappuccio, Nicola Brunetti-Pierri, Kevin McCall, Douglas L. Brockmeyer, Alexandre Reymond, Matthew B. Harms, Lilian Antunes, Matthew B. Dobbs, Jennifer Strahle, Chevis N. Shannon, Allison E. Ashley-Koch, Carlos Cruchaga, Chiara Leoni, Marcello Niceta, Christina A. Gurnett

المصدر: Am J Hum Genet

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, de novo mutations, Hindbrain, Haploinsufficiency, Biology, macrocephaly, Polymorphism, Single Nucleotide, Article, Chromodomain, chromodomain genes, 03 medical and health sciences, 0302 clinical medicine, Chiari I malformation, Exome Sequencing, medicine, Genetics, Animals, Humans, Gene, Zebrafish, Genetics (clinical), Foramen magnum, Macrocephaly, rare variants, Brain, Correction, gene burden, medicine.disease, Magnetic Resonance Imaging, Syringomyelia, Human genetics, Arnold-Chiari Malformation, DNA-Binding Proteins, 030104 developmental biology, medicine.anatomical_structure, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Case-Control Studies, zebrafish disease model, Female, Headaches, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95ac6d2e60064bcaddc86c2e83424d58Test
https://europepmc.org/articles/PMC7820723Test/

المؤلفون: G. M. Della Pepa, Giovanni Sabatino, Enrico Marchese, Alfredo Puca, Alessio Albanese, Giulio Maira, Francesco Signorelli

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, medicine.medical_treatment, Settore MED/27 - NEUROCHIRURGIA, Dural arteriovenous fistulas, Single Center, Neurosurgical Procedures, Embolization, medicine, Humans, Sinus (anatomy), Aged, Cerebral Hemorrhage, Retrospective Studies, Aged, 80 and over, Central Nervous System Vascular Malformations, Foramen magnum, business.industry, General Medicine, Middle Aged, medicine.disease, Embolization, Therapeutic, Tentorium, Surgery, medicine.anatomical_structure, Treatment Outcome, Anterior cranial fossa, Cavernous sinus, Female, Neurology (clinical), Radiology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13551aed275b463b52217e4771d9f48cTest
http://hdl.handle.net/10807/149173Test