Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Akar HT"'
Autor:
Zapater LJ; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, 10021.; Tow Center for Developmental Oncology, Department of Pediatrics, Memorial Sloan Kettering Cancer Center; New York, United States, 10021., Lewis SA; Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital and Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine, Phoenix, AZ., Gutierrez RL; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Yamada M; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, 10021.; Tow Center for Developmental Oncology, Department of Pediatrics, Memorial Sloan Kettering Cancer Center; New York, United States, 10021., Rodriguez-Fos E; Barcelona Supercomputing Center (BSC), Barcelona, Spain, 08034., Planas-Felix M; Barcelona Supercomputing Center (BSC), Barcelona, Spain, 08034., Cameron D; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, 10021.; Tow Center for Developmental Oncology, Department of Pediatrics, Memorial Sloan Kettering Cancer Center; New York, United States, 10021., Demarest P; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, 10021., Nabila A; Department of Pharmacology, Weill Cornell Medical College, New York, NY, 10021., Mueller H; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, 10021.; Tow Center for Developmental Oncology, Department of Pediatrics, Memorial Sloan Kettering Cancer Center; New York, United States, 10021., Zhao J; Program for Mathematical Genomics, Departments of Systems Biology and Biomedical Informatics, Columbia University, New York, NY., Bergin P; Department of Pharmacology, Weill Cornell Medical College, New York, NY, 10021., Reed C; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, 10021., Chwat-Edelstein T; Molecular Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, 10021.; Programs in Biochemistry, Cell, and Molecular Biology, Weill Cornell Graduate School of Medical Sciences, New York, NY 10065., Pagnozzi A; The Australian e-Health Research Centre, CSIRO, Brisbane, Australia., Nava C; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Bourel-Ponchel E; Research Group on Multimodal Analysis of Brain Function, University of Picardie Jules Verne, France.; Pediatric Neurophysiology Unit, Amiens Picardie University Hospital, France., Cornejo P; Phoenix Children's Hospital, Phoenix, Arizona., Dursun A; Hacettepe University, Faculty of Medicine & Institute of Child Health, Department of Pediatric Metabolism, Ankara, Turkey., Özgül RK; Hacettepe University, Faculty of Medicine & Institute of Child Health, Department of Pediatric Metabolism, Ankara, Turkey., Akar HT; Hacettepe University, Faculty of Medicine & Institute of Child Health, Department of Pediatric Metabolism, Ankara, Turkey., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Cheema HA; Department of Pediatric Medicine, The Children's Hospital, University of Child Health Sciences, Lahore, Pakistan., Anjum MN; Department of Pediatric Medicine, The Children's Hospital, University of Child Health Sciences, Lahore, Pakistan., Zifarelli G; CENTOGENE GmbH, Rostock, Germany., Essid M; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia., Ben Hafsa M; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia., Benrhouma H; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia., Montoya CIG; Graduate Program in Genetics, University of Arizona, Tucson, AZ, 85721., Proekt A; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania., Zhao X; Molecular Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, 10021., Socci ND; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, 10021., Hayes M; Department of Physics and Computer Science, Xavier University of Louisiana, New Orleans, LA., Bigot Y; Physiologie de la reproduction et des comportements, UMR INRAe 0085 CNRS7247, Centre INRAE Val de Loire, France., Rabadan R; Program for Mathematical Genomics, Departments of Systems Biology and Biomedical Informatics, Columbia University, New York, NY., Torrents D; Barcelona Supercomputing Center (BSC), Barcelona, Spain, 08034.; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain., Kleinmann CL; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada., Kruer MC; Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital and Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine, Phoenix, AZ., Toth M; Department of Pharmacology, Weill Cornell Medical College, New York, NY, 10021., Kentsis A; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, 10021.; Tow Center for Developmental Oncology, Department of Pediatrics, Memorial Sloan Kettering Cancer Center; New York, United States, 10021.; Barcelona Supercomputing Center (BSC), Barcelona, Spain, 08034.; Departments of Pediatrics, Pharmacology, and Physiology & Biophysics, Weill Medical College of Cornell University; New York, United States.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Aug 13. Date of Electronic Publication: 2024 Aug 13.
Autor:
Akar HT; Department of Pediatric Metabolism, Ankara Etlik City Hospital Health Complex Children's Hospital, Ankara, Turkey. akarhaliltuna@gmail.com., Yıldız H; Department of Pediatric Metabolism, Ankara Etlik City Hospital Health Complex Children's Hospital, Ankara, Turkey., Öztürk Z; Department of Pediatric Intensive Care Medicine, Ankara Etlik City Hospital, Ankara, Turkey., Karakaya D; Department of Pediatric Nephrology, Ankara Etlik City Hospital, Ankara, Turkey., Sezer A; Deparment of Medical Genetics, Ankara Etlik City Hospital, Ankara, Turkey., Olgaç A; Department of Pediatric Metabolism, Ankara Etlik City Hospital Health Complex Children's Hospital, Ankara, Turkey.
Publikováno v:
BMC nephrology [BMC Nephrol] 2024 Aug 09; Vol. 25 (1), pp. 257. Date of Electronic Publication: 2024 Aug 09.
Autor:
Akar HT; Department of Pediatrics, Pediatric Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey., Sayar E; Department of Pediatrics, Pediatric Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey., Sarıtaş Nakip Ö; Department of Pediatrics, Pediatric Intensive Care Unit, Ankara Etlik City Hospital, Ankara, Turkey., Sönmez E; Department of Pediatrics, Ankara Etlik City Hospital, Ankara, Turkey., Özkan MB; Department of Pediatric Radiology, Ankara Etlik City Hospital, Ankara, Turkey., Olgaç A; Department of Pediatrics, Pediatric Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey.
Publikováno v:
Molecular syndromology [Mol Syndromol] 2024 Aug; Vol. 15 (4), pp. 333-338. Date of Electronic Publication: 2024 Mar 04.
Autor:
Akar HT; Department of Pediatric Metabolism, Ankara Etlik City Hospital Health Complex Children's Hospital, Ankara, Turkey. akarhaliltuna@gmail.com., Yıldız H; Department of Pediatric Metabolism, Ankara Etlik City Hospital Health Complex Children's Hospital, Ankara, Turkey., Öztürk Z; Department of Pediatric Intensive Care Medicine, Ankara Etlik City Hospital, Ankara, Turkey., Karakaya D; Department of Pediatric Nephrology, Ankara Etlik City Hospital, Ankara, Turkey., Sezer A; Deparment of Medical Genetics, Ankara Etlik City Hospital, Ankara, Turkey., Olgaç A; Department of Pediatric Metabolism, Ankara Etlik City Hospital Health Complex Children's Hospital, Ankara, Turkey.
Publikováno v:
BMC nephrology [BMC Nephrol] 2024 Jul 08; Vol. 25 (1), pp. 217. Date of Electronic Publication: 2024 Jul 08.
Autor:
Zubarioglu T; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey. Electronic address: tanyel.zubarioglu@iuc.edu.tr., Kıykım E; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey., Köse E; Ankara University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey., Eminoğlu FT; Ankara University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey., Teke Kısa P; Dokuz Eylul University Medical Faculty, Division of Pediatric Nutrition and Metabolism, Izmir, Turkey., Balcı MC; Istanbul University, Istanbul Medical Faculty Children's Hospital, Division of Nutrition and Metabolism, Istanbul, Turkey., Özer I; Ondokuz Mayıs University, Faculty of Medicine, Department of Pediatric Metabolism, Samsun, Turkey; Kafkas University, Division of Pediatric Nutrition and Metabolism, Kars, Turkey., İnci A; Gazi University School of Medicine, Division of Pediatric Nutrition and Metabolism, Ankara, Turkey., Çilesiz K; Gazi University School of Medicine, Division of Pediatric Nutrition and Metabolism, Ankara, Turkey., Canda E; Ege University Medical Faculty, Division of Pediatric Nutrition and Metabolism, İzmir, Turkey., Yazıcı H; Ege University Medical Faculty, Division of Pediatric Nutrition and Metabolism, İzmir, Turkey., Öztürk-Hişmi B; Marmara University School of Medicine, Division of Pediatric Metabolic Disorders, İstanbul, Turkey., Bulut FD; Cukurova University Medical Faculty, Division of Pediatric Metabolism and Nutrition, Adana, Turkey., Dorum S; Health Sciences University, Bursa Yuksek Ihtisas Training and Research Hospital, Division of Pediatric Nutrition and Metabolism, Bursa, Turkey., Akgun A; Firat University, School of Medicine, Department of Pediatrics, Division of Pediatric Metabolic Diseases, Elazığ, Turkey., Yalçın-Çakmaklı G; Hacettepe University Faculty of Medicine, Department of Neurology, Ankara, Turkey., Kılıç-Yıldırım G; Eskisehir Osmangazi University, Faculty of Medicine, Pediatric Nutrition and Metabolism Unit, Eskişehir, Turkey., Soyuçen E; Akdeniz University Faculty of Medicine, Department of Pediatrics, Division of Inherited Pediatric Metabolic Diseases, Antalya, Turkey., Akçalı A; Gaziantep University Faculty of Medicine, Department of Neurology, Gaziantep, Turkey., Güneş D; Bağcılar Training and Research Hospital, Division of Inborn Metabolic Disease, İstanbul, Turkey., Durmuş A; Kanuni Training and Research Hospital, Division of Pediatric Metabolism, Trabzon, Turkey., Gündüz A; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Neurology, İstanbul, Turkey., Kasapkara ÇS; Ankara Yıldırım Beyazıt University, Ankara Bilkent City Hospital, Department of Pediatric Metabolism, Ankara, Turkey., Göksoy E; Adnan Menderes University Medical Faculty, Division of Pediatric Metabolism, Aydın, Turkey., Akar HT; Ankara Etlik City Hospital, Pediatric Metabolic Diseases Unit, Ankara, Turkey., Ersoy M; Health Sciences University, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Department of Pediatrics, Division of Pediatric Metabolic Diseases, İstanbul, Turkey., Erdöl Ş; Bursa Uludag University Faculty of Medicine, Department of Pediatrics, Division of Metabolism, Bursa, Turkey., Yıldız Y; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Ankara, Turkey., Hanağası HA; Istanbul Faculty of Medicine, Department of Neurology, İstanbul, Turkey., Arslan N; Dokuz Eylul University Medical Faculty, Division of Pediatric Nutrition and Metabolism, Izmir, Turkey., Aktuğlu-Zeybek Ç; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108493. Date of Electronic Publication: 2024 May 13.
Autor:
Akar HT; Department of Pediatrics, Pediatric Metabolism Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey. halil.tuna.akar@hacettepe.edu.tr., Yıldız Y; Department of Pediatrics, Pediatric Metabolism Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey., Mutluay R; Department of Internal Medicine, Nephrology Unit, Osmangazi University Faculty of Medicine, Eskişehir, Turkey., Tekin E; Department of Pathology, Osmangazi University Faculty of Medicine, Eskişehir, Turkey., Tokatlı A; Department of Pediatrics, Pediatric Metabolism Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Publikováno v:
CEN case reports [CEN Case Rep] 2024 Apr; Vol. 13 (2), pp. 81-85. Date of Electronic Publication: 2023 Jun 21.
Autor:
Ensert Cihan CK; Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Akar HT; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Sogukpinar M; Department of Pediatric Genetics, Faculty of Medicine, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Utine GE; Department of Pediatric Genetics, Faculty of Medicine, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Çelik HT; Division of Neonatology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Publikováno v:
Molecular syndromology [Mol Syndromol] 2024 Feb; Vol. 15 (1), pp. 83-88. Date of Electronic Publication: 2023 Oct 27.
Autor:
Almousa H; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada., Lewis SA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Nordlie SH; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Pagnozzi A; CSIRO Health and Biosecurity, The Australian e-Health Research Centre, Brisbane 4029, Australia., Magee H; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Heim JA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Cornejo P; Pediatric Neuroradiology Division, Pediatric Radiology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.; Department of Radiology, Mayo Clinic, Scottsdale, AZ 85259, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12622, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo 4460015, Egypt., Anwar N; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan., Maqbool S; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan., Rahman F; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan., Neilson DE; Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Vemuri A; Department of Pathology, University of Chicago, Chicago, IL 60637, USA., Jin SC; Department of Genetics, Washington University, St.Louis, MO 63110, USA., Yang XR; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, S.W. Calgary, AB T2N 4N1, Canada., Heidari A; Reference Laboratory, Qazvin Medical University, Qazvin 34148-33245, Iran., van Gassen K; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands., Trimouille A; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, CHU Bordeaux-Hôpital Pellegrin, Place Amélie Raba Léon, 33000 Bordeaux, France., Thauvin-Robinet C; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France., Liu J; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France., Tomoum H; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt., Shata MO; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.; Neuroscience Research Center, Mashhad University of Medical Science, Mashhad 13944-91388, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St.George's, University of London, London SW17 0RE, UK., Yeşil G; Istanbul Medical Faculty Department of Medical Genetics, Istanbul University, Istanbul 34452, Turkey., Lingappa L; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India., Baruah D; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India., Ebrahimzadeh F; Department of Internal Medicine, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran., Van-Gils J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands., Faivre L; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran., Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran., Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran., Mohammad R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., van der Smagt J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands., Qari A; Medical Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, S.W. Calgary, AB T2N 4N1, Canada., Dursun A; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey., Özgül RK; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey., Akar HT; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey., Bilguvar K; Department of Medical Genetics, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.; Department of Neurosurgery and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Mignot C; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75012 Paris, France., Keren B; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France., Raveli C; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, 75012 Paris, France., Burglen L; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France., Afenjar A; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France., Kaat LD; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands., Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Padilla-Lopez S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Sacher M; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A0C7, Canada., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Jan 04; Vol. 147 (1), pp. 311-324.
Autor:
Kahraman AB; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Turkey. Electronic address: aycaburcuoksuz@gmail.com., Yıldız Y; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Turkey. Electronic address: yilmaz.yildiz@hacettepe.edu.tr., Çıkı K; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Turkey. Electronic address: kismet.ciki@hacettepe.edu.tr., Erdal I; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Turkey. Electronic address: izzet.erdal@hacettepe.edu.tr., Akar HT; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Turkey. Electronic address: halil.tuna.akar@hacettepe.edu.tr., Dursun A; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Turkey. Electronic address: adursun@hacettepe.edu.tr., Tokatlı A; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Turkey. Electronic address: atokatli@hacettepe.edu.tr., Sivri S; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Turkey. Electronic address: ssivri@hacettepe.edu.tr.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Jun; Vol. 139 (2), pp. 107607. Date of Electronic Publication: 2023 May 11.
Autor:
Akar HT; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Yıldız Y; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Güvenkaya G; Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Çıkı K; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Kahraman AB; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Erdal İ; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Coşkun T; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Dursun A; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Sivri HS; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Tokatlı A; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Publikováno v:
Balkan medical journal [Balkan Med J] 2022 Sep 09; Vol. 39 (5), pp. 345-350. Date of Electronic Publication: 2022 Aug 15.