Utility of Optical Genome Mapping in Repeat Disorders.

Autor: Mutlu MB; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye., Karakaya T; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, Türkiye., Çelebi HBG; Department of Medical Genetics, Balıkesir Ataturk City Hospital, Balıkesir, Türkiye., Duymuş F; Department of Medical Genetics, Konya City Hospital, Konya, Türkiye., Seyhan S; Laboratory of Genetics, Memorial Şişli Hospital, Istanbul, Türkiye., Yılmaz S; Department of Pediatrics, Division of Pediatric Neurology, Ege University Faculty of Medicine, Izmir, Türkiye., Yiş U; Department of Pediatrics, Division of Pediatric Neurology, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye., Atik T; Department of Pediatrics, Division of Pediatric Genetics, Ege University Faculty of Medicine, Izmir, Türkiye., Yetkin MF; Department of Neurology, Erciyes University Faculty of Medicine, Kayseri, Türkiye., Gümüş H; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University Faculty of Medicine, Kayseri, Türkiye.

Publikováno v: Clinical genetics [Clin Genet] 2024 Oct 22. Date of Electronic Publication: 2024 Oct 22.

Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies

Autor: Paketci, C., Karakaya, M., Edem, P., Bayram, E., Keller, N., Daimagüler, H.-S., Cirak, S., Jordanova, A., Hiz, S., Wirth, B., Yiş, U.

Publikováno v: In Revue Neurologique December 2020 176(10):846-855

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Autor: Armirola-Ricaurte C; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Zonnekein N; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Koutsis G; Neurogenetics Unit, 1st Department of Neurology, Eginitio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Amor-Barris S; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Pelayo-Negro AL; University Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain., Atkinson D; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Efthymiou S; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Turchetti V; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Dinopoulos A; 3rd Department of Pediatrics, Attiko Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Garcia A; Service of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain., Karakaya M; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany., Moris G; Service of Neurology, University Hospital Central de Asturias, University of Oviedo, Oviedo, Spain., Polat AI; Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey., Yiş U; Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey., Espinos C; Rare Neurodegenerative Disease Laboratory, Centro de Investigación Príncipe Felipe (CIPF), CIBER on Rare Diseases (CIBERER), Valencia, Spain., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., De Vriendt E; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Karadima G; Neurogenetics Unit, 1st Department of Neurology, Eginitio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany., Hanna M; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Berciano J; University Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain., Jordanova A; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria. Electronic address: albena.jordanova@uantwerpen.be.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101117. Date of Electronic Publication: 2024 Mar 06.

PB0310 Arterial Ischemic Stroke Related to Minor Head Trauma: A Report of Five Pediatric Cases

Autor: Gök, A., Yilmaz, S., Yis, U., Hiz Kurul, S., Tüfekçi, Ö., Güleryüz, H., Ören, H.

Publikováno v: In Research and Practice in Thrombosis and Haemostasis October 2023 7 Supplement 2

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.