Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elmonairy AA"'
Autor:
Pagnamenta, AT, Heemeryck, P, Martin, HC, Bosc, C, Peris, L, Uszynski, I, Gory-Fauré, S, Couly, S, Deshpande, C, Siddiqui, A, Elmonairy, AA, Consortium, WGS500, Consortium, Genomics England Research, Jayawant, S, Murthy, S, Walker, I, Loong, L, Bauer, P, Vossier, F, Denarier, E, Maurice, T, Barbier, EL, Deloulme, J-C, Taylor, JC, Blair, EM, Andrieux, A, Moutin, M-J
Publikováno v:
Hum Mol Genet
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2019, ⟨10.1093/hmg/ddz186⟩
Human Molecular Genetics, 2019, ⟨10.1093/hmg/ddz186⟩
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2019, ⟨10.1093/hmg/ddz186⟩
Human Molecular Genetics, 2019, ⟨10.1093/hmg/ddz186⟩
Reversible detyrosination of tubulin, the building block of microtubules, is crucial for neuronal physiology. Enzymes responsible for detyrosination were recently identified as complexes of vasohibins (VASHs) one or two with small VASH-binding protei
Autor:
Alzayed NT; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alzuabi AH; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alqusaimi RA; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., El-Anany EA; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alholle A; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Aboelanine AH; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Omar S; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alsafi R; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Elmonairy AA; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alali FJ; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alahmad A; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alsharhan H; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Albash B; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Marafi D; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2024 May 22; Vol. 10 (3), pp. e200156. Date of Electronic Publication: 2024 May 22 (Print Publication: 2024).
Autor:
Alsharhan H; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, Safat 13110, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser 92426, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Ahmed AA; Newborn Screening Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Next Generation Sequencing Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Ali NM; Next Generation Sequencing Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Alahmad A; Molecular Genetics Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Albash B; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Elshafie RM; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Next Generation Sequencing Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Alkanderi S; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Next Generation Sequencing Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Elkazzaz UM; Newborn Screening Office, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser 92426, Kuwait., Cyril PX; Newborn Screening Office, Adan Hospital, Ministry of Health, Hadiya 52700, Kuwait., Abdelrahman RM; Newborn Screening Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Elmonairy AA; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Ibrahim SM; Newborn Screening Office, Al-Sabah Maternity Hospital, Ministry of Health, Sulaibikhat 80901, Kuwait., Elfeky YME; Newborn Screening Office, Jahra Hospital, Ministry of Health, Jahra 00020, Kuwait., Sadik DI; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Al-Enezi SD; Molecular Genetics Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Salloum AM; Biochemistry Laboratory, Al-Sabah Hospital, Ministry of Health, Shuwaikh 70051, Kuwait., Girish Y; Clinical Biochemistry Laboratory, Ibn Sina Hospital, Ministry of Health, Shuwaikh, P.O. Box 25427, Safat 13115, Kuwait., Al-Ali M; Next Generation Sequencing Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Ramadan DG; Department of Pediatrics, Al-Sabah Hospital, Ministry of Health, Shuweikh 70051, Kuwait., Alsafi R; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya 52700, Kuwait., Al-Rushood M; Newborn Screening Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Bastaki L; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.
Publikováno v:
International journal of neonatal screening [Int J Neonatal Screen] 2021 Aug 17; Vol. 7 (3). Date of Electronic Publication: 2021 Aug 17.
Autor:
Baldi C; Centogene AG, Rostock, Germany., Bertoli-Avella AM; Centogene AG, Rostock, Germany., Al-Sannaa N; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Alfadhel M; King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia., Al-Thihli K; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman., Alameer S; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Jeddah, Saudi Arabia., Elmonairy AA; Kuwait Medical Genetics Center, Kuwait., Al Shamsi AM; Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates., Abdelrahman HA; Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University Al Ain, Al-Ain, United Arab Emirates., Al-Gazali L; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University Al Ain, United Arab Emirates., Shawli A; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Jeddah, Saudi Arabia.; Molecular Medicine Section, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia., Al-Hakami F; Molecular Medicine Section, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.; Molecular Medicine Section, King Abdulaziz Medical City-WR, Jeddah, Saudi Arabia., Yavuz H; Centogene AG, Rostock, Germany., Kandaswamy KK; Centogene AG, Rostock, Germany., Rolfs A; Centogene AG, Rostock, Germany.; Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Rostock, Germany., Brandau O; Centogene AG, Rostock, Germany., Bauer P; Centogene AG, Rostock, Germany.
Publikováno v:
Clinical genetics [Clin Genet] 2018 May; Vol. 93 (5), pp. 1087-1092.