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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

Autor: Calì E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Sahin Y; Department of Medical Genetics, Genoks Genetic Laboratory, Ankara, Turkey., Al Shamsi A; Tawam Hospital, Al Ain, United Arab Emirates., El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence des Déficiences Intellectuelles de Causes Rares, Centre de Recherche en Biomédecine de Strasbourg (CRBS), Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Chaabouni M; LGC genetics, Centre Medical les Jasmins, Tunis, Tunisia., Mankad K; Department of Radiology, Great Ormond Street Hospital for Children, London, United Kingdom., Galanaki E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Sudhakar S; Department of Radiology, Great Ormond Street Hospital for Children, London, United Kingdom., Athanasiou-Fragkouli A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Çelik T; Department of Pediatric Neurology, Private Practice, Adana, Turkey., Narlı N; Division of Neonatology, Department of Pediatrics, Medical School, Cukurova University, Adana, Turkey., Bianca S; Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi, Catania, Italy., Murphy D; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro,' University of Palermo, Palermo, Italy., De Carvalho Moreira FM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, United Kingdom., Andrea Accogli; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Monastiri K; Department of Neonatology, Fattouma Bourguiba Hospital, Monastir, Tunisia., Edizadeh M; Department of Medical Genetics, Genoks Genetic Laboratory, Ankara, Turkey., Nardello R; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro,' University of Palermo, Palermo, Italy., Ognibene M; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., De Marco P; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, AOU 'Policlinico,' University of Catania, Catania, Italy., Zara F; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'Istituto Giannina Gaslini,' Genova, Italy., Şahin Y; Department of Medical Genetics, Biruni University, İstanbul, Turkey., Al-Gazali L; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Abi Warde MT; Pediatric Neurology Department, CHU Strasbourg, Strasbourg, France., Gerard B; Laboratoires de Diagnostic Génétique, Unité de Génétique Moléculaire, Nouvel Hôpital Civil, Strasbourg Cedex, France., Zifarelli G; CENTOGENE AG, Rostock, Germany., Beetz C; CENTOGENE AG, Rostock, Germany., Fortuna S; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste, Italy., Soler M; CONCEPT Lab, Italian Institute of Technology (IIT), Genova, Italy., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Varshney G; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address: v.salpietro@ucl.ac.uk., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2194-2203. Date of Electronic Publication: 2022 Aug 24.

The prevalence and diagnostic criteria of health-care associated infections in neonatal intensive care units in Turkey: A multicenter point- prevalence study.

Autor: Bedir Demirdağ T; Gazi University, Faculty of Medicine, Department of Pediatric Infectious Diseases, Ankara, Turkey. Electronic address: tugbabedir@gmail.com., Koç E; Gazi University, Faculty of Medicine, Department of Neonatology, Ankara, Turkey., Tezer H; Gazi University, Faculty of Medicine, Department of Pediatric Infectious Diseases, Ankara, Turkey., Oğuz S; University of Health Sciences, Zekai Tahir Burak Women's Health Education and Research Hospital, Department of Neonatology, Ankara, Turkey., Satar M; Çukurova University, Faculty of Medicine, Department of Neonatology, Adana, Turkey., Sağlam Ö; University of Health Sciences, Kanuni Sultan Süleyman Training and Research Hospital, Department of Neonatology, Istanbul, Turkey., Uygun SS; Konya Selcuk University, Faculty of Medicine, Department of Neonatology, Konya, Turkey., Önal E; Gazi University, Faculty of Medicine, Department of Neonatology, Ankara, Turkey., Hirfanoğlu İM; Gazi University, Faculty of Medicine, Department of Neonatology, Ankara, Turkey., Tekgündüz K; Atatürk University, Faculty of Medicine, Department of Neonatology, Erzurum, Turkey., Oygür N; Akdeniz University, Faculty of Medicine, Department of Neonatology, Antalya, Turkey., Bülbül A; University of Health Sciences, Sisli Etfal Training and Research Hospital, Department of Neonatology, Istanbul, Turkey., Zübarioğlu AU; Yeni Yüzyıl University Faculty of Medicine, Department of Neonatology, Istanbul, Turkey., Üstün N; Medeniyet University. Goztepe Training and Research Hospital, Department of Neonatology, Istanbul, Turkey., Ünal S; University of Health Sciences, Etlik Zübeyde Hanim Women's Health Training and Research Hospital, Department of Neonatology, Ankara, Turkey., Aygün C; Ondokuz Mayıs University, Faculty of Medicine, Department of Neonatology, Turkey., Saygılı Karagöl B; University of Health Sciences, Gülhane Training and Research Hospital, Department of Neonatology, Ankara, Turkey., Zenciroğlu A; University of Health Sciences, Dr. Sami Ulus Maternity and Children Education and Research Hospital, Department of Neonatology, Ankara, Turkey., Öncel MY; University of Health Sciences Izmir Tepecik Training and Research Hospital, Department of Neonatology, Izmir, Turkey., Çakıl Sağlık A; Osmangazi University, Faculty of Medicine, Department of Neonatology, Eskisehir, Turkey., Okulu E; Ankara University, Faculty of Medicine, Department of Neonatology, Ankara, Turkey., Terek D; Ege University, Faculty of Medicine, Department of Neonatology, Izmir, Turkey., Narlı N; Metro Private Hospital, Neonatology Unit, Adana, Turkey., Aliefendioğlu D; Kırıkkale University, Faculty of Medicine, Department of Neonatology, Kırıkkale, Turkey., Gürsoy T; Koc University, Faculty of Medicine, Department of Neonatology, Istanbul, Turkey., Ünal S; University of Health Sciences, Ankara Hematology Oncology Children's Training and Research Hospital, Department of Neonatology, Ankara, Turkey., Kaynak Türkmen M; Adnan Menderes University, Faculty of Medicine, Department of Neonatology, Aydın, Turkey., Kaya Narter F; University of Health Sciences, Kartal Dr Lutfi Kirdar Training and Research Hospital, Department of Neonatology, Istanbul, Turkey., Aladağ Çiftdemir N; Trakya University, Faculty of Medicine, Department of Neonatology, Edirne, Turkey., Beken S; Acıbadem University, Faculty of Medicine, Department of Neonatology, Istanbul, Turkey., Çakır SÇ; Uludağ University, Faculty of Medicine, Department of Neonatology, Bursa, Turkey., Yiğit Ş; Hacettepe University, Faculty of Medicine, Department of Neonatology, Ankara, Turkey., Çoban A; Istanbul University, Faculty of Medicine, Department of Neonatology, Istanbul, Turkey., Ecevit A; Baskent University, Faculty of Medicine, Department of Neonatology, Ankara, Turkey., Çelik Y; Mersin University, Faculty of Medicine, Department of Neonatology, Mersin, Turkey., Kulalı F; University of Health Sciences, Dr. Behcet Uz Children's Health and Diseases and Surgery Training and Research Hospital, Department of Neonatology, Izmir, Turkey.

Publikováno v: Pediatrics and neonatology [Pediatr Neonatol] 2021 Mar; Vol. 62 (2), pp. 208-217. Date of Electronic Publication: 2021 Jan 19.

The Turkish Neonatal Society proposal for the management of COVID-19 in the neonatal intensive care unit.

Autor: Erdeve Ö; Division of Neonatology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey., Çetinkaya M; Division of Neonatology, Department of Pediatrics, University of Health Science Faculty of Medicine, İstanbul, Turkey., Baş AY; Division of Neonatology, Department of Pediatrics, Yıldırım Beyazit University Faculty of Medicine, Ankara, Turkey., Narlı N; Division of Neonatology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey., Duman N; Division of Neonatology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey., Vural M; Division of Neonatology, Department of Pediatrics, İstanbul Cerrahpaşa University Faculty of Medicine, İstanbul, Turkey., Koç E; Division of Neonatology, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey.

Publikováno v: Turk pediatri arsivi [Turk Pediatri Ars] 2020 Jun 19; Vol. 55 (2), pp. 86-92. Date of Electronic Publication: 2020 Jun 19 (Print Publication: 2020).

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