부산대학교 도서관

Huw B. Thomas; Leigh A.M. Demain; Alfredo Cabrera-Orefice; Isabelle Schrauwen; Hanan E. Shamseldin; Alessandro Rea; Thashi Bharadwaj; Thomas B. Smith; Monika Oláhová; Kyle Thompson; Langping He; Namanpreet Kaur; Anju Shukla; Musaad Abukhalid; Muhammad Ansar; Sakina Rehman; Saima Riazuddin; Firdous Abdulwahab; Janine M. Smith; Zornitza Stark; Hanifenur Mancilar; Sait Tumer; Fatma N. Esen; Eyyup Uctepe; Vehap Topcu; Ahmet Yesilyurt; Erum Afzal; Mehri Salari; Christopher Carroll; Giovanni Zifarelli; Peter Bauer; Deniz Kor; Fatma D. Bulut; Henry Houlden; Reza Maroofian; Samantha Carrera; Wyatt W. Yue; Kevin J. Munro; Fowzan S. Alkuraya; Peter Jamieson; Zubair M. Ahmed; Suzanne M. Leal; Robert W. Taylor; Ilka Wittig; Raymond T. O’Keefe; William G. Newman

Am J Hum Genet
Demain, L A M, Cabrera-Orefice, A, Schrauwen, I, Shamseldin, H E, Rea, A, Bharadwaj, T, Smith, T B, Oláhová, M, Thompson, K, He, L, Kaur, N, Shukla, A, Abukhalid, M, Ansar, M, Rehman, S, Riazuddin, S, Abdulwahab, F, Smith, J M, Stark, Z, Mancilar, H, Tumer, S, Esen, F N, Uctepe, E, Topcu, V, Yesilyurt, A, Afzal, E, Salari, M, Carroll, C, Zifarelli, G, Bauer, P, Kor, D, Bulut, F D, Houlden, H, Maroofian, R, Carrera, S, Yue, W W, Munro, K J, Alkuraya, F S, Jamieson, P, Ahmed, Z M, Leal, S M, Taylor, R W, Wittig, I & O'Keefe, R T 2025, 'Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency', American Journal of Human Genetics, vol. 112, no. 4, pp. 952-962. https://doi.org/10.1016/j.ajhg.2025.02.005

Aldhilan, Amal ; Alhakeem, Afnan ; Al Hajjaj, Sumayah ; Abukhalid, Musaad ; Aldhalaan, Hisham ; Salah, Ehab ; Saeed, Muhammed ; Tabassum, Sadia ; El Khashab, Heba Y. ; Aljabri, Mohammed ; Ali, El-Sayed ; Alwadei, Ali ; Hundallah, Khalid ; Alghamdi, Abdulaziz ; Hakami, Wejdan ; AlShafi, Shatha ; Alkuraya, Fowzan S. ; Alanazy, Naif ; Seidahmed, Mohammed Zain ; Alfadhel, Majid ; Tabarki, Brahim

In Pediatric Neurology September 2022 134:78-82

Abukhalid, N.; Alzahrani, N.; Albawardi, A.; Alsager, K.; Alsowailmi, B.

In: Journal of Clinical Tuberculosis and Other Mycobacterial Diseases. (Journal of Clinical Tuberculosis and Other Mycobacterial Diseases, December 2025, 41)

M Al Qahtani; A Alshahrani; A Alskaini; N Abukhalid; N Al Johani; M Al Ammari; L Al Swaidan; S Binsalih; A Al Sayyari; A Theaby

Saudi Journal of Kidney Diseases and Transplantation, Vol 24, Iss 2, Pp 281-285 (2013)

Abukhalid N; Department of Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR, United States.; College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Rojony R; Department of Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR, United States.; Danelishvili L; Department of Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR, United States.; Department of Microbiology, College of Science, Oregon State University, Corvallis, OR, United States.; Bermudez LE; Department of Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR, United States.; Department of Microbiology, College of Science, Oregon State University, Corvallis, OR, United States.

Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101585359 Publication Model: eCollection Cited Medium: Internet ISSN: 2235-2988 (Electronic) Linking ISSN: 22352988 NLM ISO Abbreviation: Front Cell Infect Microbiol Subsets: MEDLINE

Abukhalid N; Department of Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR 97331, USA.; Islam S; Department of Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR 97331, USA.; Ndzeidze R; Department of Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR 97331, USA.; Bermudez LE; Department of Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR 97331, USA.; Department of Microbiology, College of Science, Oregon State University, Corvallis, OR 97331, USA.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101596317 Publication Model: Electronic Cited Medium: Print ISSN: 2076-0817 (Print) Linking ISSN: 20760817 NLM ISO Abbreviation: Pathogens Subsets: PubMed not MEDLINE

Qahtani, M. Al; Alshahrani, A.; Alskaini, A.; Abukhalid, N.; Johani, N. Al; Ammari, M. Al; Swaidan, L. Al; Binsalih, S.; Sayyari, A. Al; Theaby, A.

Saudi Journal of Kidney Diseases and Transplantation. March-April, 2013, Vol. 24 Issue 2, p281.

Borlot, Felippe; Abushama, Ahmed; Morrison-Levy, Nadine; Jain, Puneet; Vinayan, Kollencheri Puthenveettil; Abukhalid, Musaad; Aldhalaan, Hesham M.; Almuzaini, Hanin S.; Gulati, Sheffali; Hershkovitz, Tova; Konanki, Ramesh; Lingappa, Lokesh; Luat, Aimee F.; Shafi, Shatha; Tabarki, Brahim; Thomas, Maya; Yoganathan, Sangeetha; Alfadhel, Majid; Arya, Ravindra; Donner, Elizabeth J.; Ehaideb, Salleh N.; Gowda, Vykuntaraju K.; Jain, Vivek; Madaan, Priyanka; Myers, Kenneth A.; Otsubo, Hiroshi; Panda, Prateek; Sahu, Jitendra K.; Sampaio, Leticia P. B.; Sharma, Suvasini; Simard-Tremblay, Elisabeth; Zak, Maria; Whitney, Robyn

EPILEPSIA; APR 2020, 61 4, p679-p692, 14p.

Al Qahtani, M.; Alshahrani, A.; Alskaini, A.; Abukhalid, N.; Al Johani, N.; Al Ammari, M.; Al Swaidan, L.; Binsalih, S.; Al Sayyari, A.; Theaby, A.

Saudi Journal of Kidney Diseases & Transplantation. Mar/Apr2013, Vol. 24 Issue 2, p281-285. 5p.

Somily AM; Department of Pathology and Laboratory Medicine, Microbiology Unit, College of Medicine, King Saud University and King Saud University Medical City , Riyadh , Saudi Arabia.; Garaween GA; Department of Microbiology & Immunology, College of Medicine, Alfaisal University , Riyadh , Saudi Arabia.; Abukhalid N; Department of Pathology and Laboratory Medicine, Microbiology Unit, College of Medicine, King Saud University and King Saud University Medical City , Riyadh , Saudi Arabia.; Absar MM; Department of Pathology and Laboratory Medicine, Microbiology Unit, College of Medicine, King Saud University and King Saud University Medical City , Riyadh , Saudi Arabia.; Senok AC; Department of Microbiology & Immunology, College of Medicine, Alfaisal University , Riyadh , Saudi Arabia.; Department of Infection and Immunity, King Faisal Specialist Hospital and Research Centre , Riyadh , Saudi Arabia.

Publisher: Akademiai Kiado Country of Publication: Hungary NLM ID: 9434021 Publication Model: Print Cited Medium: Print ISSN: 1217-8950 (Print) Linking ISSN: 12178950 NLM ISO Abbreviation: Acta Microbiol Immunol Hung Subsets: MEDLINE

Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Demain LAM; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Cabrera-Orefice A; Centre for Functional Proteomics, Institute for Cardiovascular Physiology, Medical Faculty, Goethe University, 60596 Frankfurt am Main, Germany.; Institute of Biochemistry, Medical Faculty, Justus-Liebig-University, 35392 Giessen, Germany.; Schrauwen I; Department of Translational Neurosciences, University of Arizona College of Medicine Phoenix, Phoenix, AZ, USA.; Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Rea A; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Bharadwaj T; Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY 10032, USA.; Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Oláhová M; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK.; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Thompson K; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; He L; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Kaur N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.; Abukhalid M; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, 45320, Pakistan.; Rehman S; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, United States.; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Riazuddin S; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, United States.; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Smith JM; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Western Sydney Genetics Program, Department of Clinical Genetics, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Carrera S; Genome Editing Unit Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, UK.; Yue WW; Newcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.; Munro KJ; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, University of Manchester, Manchester, UK.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Jamieson P; Department of Radiology, Manchester University Hospital NHS Foundation Trust, Manchester, M13 9PW, UK.; Ahmed ZM; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, United States.; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Leal SM; Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY 10032, USA.; Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Center, New York, NY.; Taylor RW; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Wittig I; Centre for Functional Proteomics, Institute for Cardiovascular Physiology, Medical Faculty, Goethe University, 60596 Frankfurt am Main, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Rhein Main, 60596 Frankfurt am Main, Germany.; O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Al-Muhaizea MA; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Aldeeb H; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia.; Almass R; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Jaber H; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia.; Binhumaid F; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Alquait L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Abukhalid M; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Aldhalaan H; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; King Abdulaziz City for Science and Technology, Riyadh, Kingdom of Saudi Arabia.; Al-Bakheet A; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Aldosary M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Alkofide H; College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia.; Alrasheed MM; College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia.; Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Kaya N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-1809 (Electronic) Linking ISSN: 00034800 NLM ISO Abbreviation: Ann Hum Genet Subsets: MEDLINE

AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Khouj E; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Helaby R; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Hamid H; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Almulhim A; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Altuwaijri N; Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Jaafar A; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alshidi T; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alzahrani F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE