المؤلفون: Shashi, V, Magiera, MM, Klein, D, Zaki, M, Schoch, K, Rudnik-Schoneborn, S, Norman, A, Neto, OLA, Dusl, M, Yuan, XD, Bartesaghi, L, De Marco, P, Alfares, AA, Marom, R, Arold, ST, Guzman-Vega, FJ, Pena, LDM, Smith, EC, Steinlin, M, Babiker, MOE, Mohassel, P, Foley, AR, Donkervoort, S, Kaur, R, Ghosh, PS, Stanley, V, Musaev, D, Nava, C, Mignot, C, Keren, B, Scala, M, Tassano, E, Picco, P, Doneda, P, Fiorillo, C, Issa, MY, Alassiri, A, Alahmad, A, Gerard, A, Liu, PF, Yang, YP, Ertl-Wagner, B, Kranz, PG, Wentzensen, IM, Stucka, R, Stong, N, Allen, AS, Goldstein, DB, Schoser, B, Rosler, KM, Alfadhel, M, Capra, V, Chrast, R, Strom, TM, Kamsteeg, EJ, Bonnemann, CG, Gleeson, JG, Martini, R, Janke, C, Senderek, J

المصدر: The EMBO journal. 37(23)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139741553

المؤلفون: Tahir S; Department of Pediatrics, Al Jalila Children's Speciality Hospital, Dubai, ARE., Flynn K; Department of Neurology, Al Jalila Children's Speciality Hospital, Dubai, ARE., Babiker MOE; Department of Pediatrics, Al Jalila Children's Speciality Hospital, Dubai, ARE.

المصدر: Cureus [Cureus] 2024 Feb 14; Vol. 16 (2), pp. e54196. Date of Electronic Publication: 2024 Feb 14 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE

المؤلفون: Pawar N; Pediatric Neurology, Al Jalila Children's Speciality Hospital, Dubai, ARE., Farid Mir F; Pediatrics, Dubai Health Authority, Dubai, ARE., Tahir S; Pediatrics, Al Jalila Children's Speciality Hospital, Dubai, ARE., Kashyape P; Pediatric Neurology, Al Jalila Children's Speciality Hospital, Dubai, ARE., Babiker MOE; Pediatric Neurology, Al Jalila Children's Speciality Hospital, Dubai, ARE.

المصدر: Cureus [Cureus] 2023 Sep 29; Vol. 15 (9), pp. e46239. Date of Electronic Publication: 2023 Sep 29 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE

المؤلفون: El Naofal M; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Ramaswamy S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Alsarhan A; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Nugud A; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Sarfraz F; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Janbaz H; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Taylor A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Jain R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Halabi N; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Yaslam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Alfalasi R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Shenbagam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Rabea F; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Bitzan M; Kidney Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Yavuz L; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Wafadari D; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Abulhoul H; Department of Metabolic Medicine, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Shankar S; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Al Maazmi M; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Rizk R; Adolescent Medicine, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Alloub Z; Neurodevelopment Section, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Elbashir H; Neuroscience Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Babiker MOE; Neurology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Chencheri N; Neurology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., AlBanna A; Mental Health Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Sultan M; Mental Health Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., El Bitar M; ENT Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Kherani S; ENT Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Thalange N; Endocrinology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Alshryda S; Orthopedics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Di Donato R; Cardiology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Tzivinikos C; Gastroenterology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Majid I; Orthopedics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Freeman AF; National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA., Gonzalez C; Immune Deficiency Cellular Therapy Program, National Cancer Institute, NIH, Bethesda, MD, USA., Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Hamdan H; Pulmonology and Sleep Medicine Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Abuhammour W; Infectious Diseases Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., AlAwadhi M; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., AlKhayat A; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Alsheikh-Ali A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Dubai Health Authority, Dubai, United Arab Emirates., Abou Tayoun AN; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.

المصدر: Genome medicine [Genome Med] 2023 Jan 27; Vol. 15 (1), pp. 5. Date of Electronic Publication: 2023 Jan 27.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing* , Rare Diseases*/diagnosis , Rare Diseases*/genetics , Rare Diseases*/therapy, Child ; Child, Preschool ; Female ; Humans ; Male ; Exome ; Genomics ; Middle East ; Adolescent ; Young Adult ; Adult

المؤلفون: Babiker MOE; Neurosciences Centre, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Kurian MA; Developmental Neurosciences Department, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Suleiman J; Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.; College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

المصدر: Frontiers in pediatrics [Front Pediatr] 2022 Aug 30; Vol. 10, pp. 964201. Date of Electronic Publication: 2022 Aug 30 (Print Publication: 2022).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

المؤلفون: Nugud A; Neurosciences Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE., Alhoot S; Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE., Agabna M; Neurosciences Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE., Babiker MOE; Neurosciences Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE., El Bashir H; Neurosciences Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE.

المصدر: Sudanese journal of paediatrics [Sudan J Paediatr] 2021; Vol. 21 (1), pp. 6-12.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Sudan Association of Paediatricians Country of Publication: Sudan NLM ID: 101670175 Publication Model: Print Cited Medium: Print ISSN: 0256-4408 (Print) Linking ISSN: 02564408 NLM ISO Abbreviation: Sudan J Paediatr Subsets: PubMed not MEDLINE

المؤلفون: Jeffery SMT; Department of Neurosurgery, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom; Department of Neurosurgery, North Bristol NHS Trust, Bristol, United Kingdom; South West Neurosurgery Centre, Derriford Hospital, University Hospitals Plymouth NHS Trust, Plymouth, Devon, United Kingdom., Markia B; Department of Neurosurgery, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom; National Institute for Clinical Neurosciences, Budapest, Hungary., Pople IK; Department of Neurosurgery, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom; Department of Neurosurgery, North Bristol NHS Trust, Bristol, United Kingdom., Aquilina K; Department of Neurosurgery, North Bristol NHS Trust, Bristol, United Kingdom; Department of Neurosurgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Smith J; Department of Paediatric Physiotherapy, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Mohamed AZ; Department of Neurosurgery, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom; Department of Neurosurgery, North Bristol NHS Trust, Bristol, United Kingdom., Burchell A; Department of Paediatric Physiotherapy, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Jenkins L; Department of Paediatric Physiotherapy, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Walsh P; Department of Neurophysiology, North Bristol NHS Trust, Bristol, United Kingdom., Clark N; Department of Paediatric Anaesthesia, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Sacree J; Department of Neurosurgery, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom; Department of Neurosurgery, North Bristol NHS Trust, Bristol, United Kingdom., Cramp M; Centre for Health and Clinical Research, University of the West of England, Bristol, United Kingdom., Babiker MOE; Department of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Atherton WG; Department of Orthopaedic Surgery, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Clarke A; Department of Orthopaedic Surgery, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Edwards RJ; Department of Neurosurgery, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom; Department of Neurosurgery, North Bristol NHS Trust, Bristol, United Kingdom; School of Clinical Sciences, University of Bristol, Bristol, United Kingdom. Electronic address: Richard.Edwards2@UHBristol.nhs.uk.

المصدر: World neurosurgery [World Neurosurg] 2019 May; Vol. 125, pp. e60-e66. Date of Electronic Publication: 2019 Jan 16.

نوع المنشور: Evaluation Study; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101528275 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-8769 (Electronic) Linking ISSN: 18788750 NLM ISO Abbreviation: World Neurosurg Subsets: MEDLINE

مواضيع طبية MeSH: Cerebral Palsy/*surgery , Rhizotomy/*methods, Adolescent ; Aftercare/statistics & numerical data ; Analgesia, Patient-Controlled/statistics & numerical data ; Child ; Child, Preschool ; Female ; Humans ; Length of Stay/statistics & numerical data ; Male ; Postoperative Care/methods ; Postoperative Complications/drug therapy ; Prospective Studies ; Treatment Outcome

المؤلفون: Babiker MOE; Neurosciences Centre, Al Jalila Children's Specialty Hospital, Dubai, UAE.

المصدر: Developmental medicine and child neurology [Dev Med Child Neurol] 2018 Jun; Vol. 60 (6), pp. 533. Date of Electronic Publication: 2018 Apr 14.

نوع المنشور: Journal Article; Comment

بيانات الدورية: Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Movement Disorders* , Phenotype*, Chorea ; Genotype ; Humans

المؤلفون: Babiker MOE; Bristol Royal Hospital for Children, Bristol, UK. Electronic address: mohamedbabiker@doctors.org.uk.

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 Jan; Vol. 22 (1), pp. 4-5. Date of Electronic Publication: 2017 Dec 21.

نوع المنشور: Editorial; Comment

بيانات الدورية: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Phenotype*, DNA, Mitochondrial ; Humans ; Syndrome

المؤلفون: Babiker MOE; Bristol Royal Hospital for Children, Bristol, UK. Electronic address: mohamedbabiker@doctors.org.uk.

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2017 Nov; Vol. 21 (6), pp. 801-802. Date of Electronic Publication: 2017 Sep 05.

نوع المنشور: Editorial; Comment

بيانات الدورية: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Clonidine* , Critical Care*, Dystonic Disorders ; Humans