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World Neurosurgery|December 27, 2016
PulseRider for Treatment of Wide-Neck Bifurcation Intracranial Aneurysms: 6-Month ResultsBenjamin Gory, Alejandro M Spiotta, Franscesco Di Paola, et al.
Brain & Development|June 20, 2008
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)A Renieri, F Mari, M A Mencarelli, et al.
Journal of the American Society of Nephrology : JASN|June 11, 1998
Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlationsG Mazzucco, P Barsotti, A O Muda, et al.
American Journal of Medical Genetics. Part A|December 31, 2013
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?M Mucciolo, P Magini, A Marozza, et al.
Clinical Genetics|November 1, 1995
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndromeA E Turco, S Rossetti, M O Biasi, et al.
International Journal of Immunopathology and Pharmacology|October 13, 2012
Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell functionN Capitani, F Ariani, A Amedei, et al.
Kidney International|March 20, 2018
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working GroupClifford E Kashtan, Jie Ding, Guido Garosi, et al.
European Journal of Human Genetics : EJHG|March 12, 2009
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosisFrancesca Mari, Pia Hermanns, Maria L Giovannucci-Uzielli, et al.
Drug Metabolism and Personalized Therapy|October 27, 2021
Related expression of TRKA and P75 receptors and the changing copy number of MYC-oncogenes determine the sensitivity of brain tumor cells to the treatment of the nerve growth factor in combination with cisplatin and temozolomideAlexandr N Chernov, Diana A Alaverdian, Oleg S Glotov, et al.
Journal of Submicroscopic Cytology and Pathology|December 16, 1998
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic studyA Federico, M T Dotti, E Cardaioli, et al.
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