부산대학교 도서관

Geer, Daniel; Wakeling, Emma; Goljan, Ewa; Robinson, Hannah; Swain, Justine; Laurence, Craig; Kaura, Nikhat

Case Reports in Pediatrics. 11/26/2025, Vol. 2025, p1-6. 6p.

Monies, Dorota ; Abouelhoda, Mohammed ; Assoum, Mirna ; Moghrabi, Nabil ; Rafiullah, Rafiullah ; Almontashiri, Naif ; Alowain, Mohammed ; Alzaidan, Hamad ; Alsayed, Moeen ; Subhani, Shazia ; Cupler, Edward ; Faden, Maha ; Alhashem, Amal ; Qari, Alya ; Chedrawi, Aziza ; Aldhalaan, Hisham ; Kurdi, Wesam ; Khan, Sameena ; Rahbeeni, Zuhair ; Alotaibi, Maha ; Goljan, Ewa ; Elbardisy, Hadeel ; ElKalioby, Mohamed ; Shah, Zeeshan ; Alruwaili, Hibah ; Jaafar, Amal ; Albar, Ranad ; Akilan, Asma ; Tayeb, Hamsa ; Tahir, Asma ; Fawzy, Mohammed ; Nasr, Mohammed ; Makki, Shaza ; Alfaifi, Abdullah ; Akleh, Hanna ; Yamani, Suad ; Bubshait, Dalal ; Mahnashi, Mohammed ; Basha, Talal ; Alsagheir, Afaf ; Abu Khaled, Musad ; Alsaleem, Khalid ; Almugbel, Maisoon ; Badawi, Manal ; Bashiri, Fahad ; Bohlega, Saeed ; Sulaiman, Raashida ; Tous, Ehab ; Ahmed, Syed ; Algoufi, Talal ; Al-Mousa, Hamoud ; Alaki, Emadia ; Alhumaidi, Susan ; Alghamdi, Hadeel ; Alghamdi, Malak ; Sahly, Ahmed ; Nahrir, Shapar ; Al-Ahmari, Ali ; Alkuraya, Hisham ; Almehaidib, Ali ; Abanemai, Mohammed ; Alsohaibaini, Fahad ; Alsaud, Bandar ; Arnaout, Rand ; Abdel-Salam, Ghada M.H. ; Aldhekri, Hasan ; AlKhater, Suzan ; Alqadi, Khalid ; Alsabban, Essam ; Alshareef, Turki ; Awartani, Khalid ; Banjar, Hanaa ; Alsahan, Nada ; Abosoudah, Ibraheem ; Alashwal, Abdullah ; Aldekhail, Wajeeh ; Alhajjar, Sami ; Al-Mayouf, Sulaiman ; Alsemari, Abdulaziz ; Alshuaibi, Walaa ; Altala, Saeed ; Altalhi, Abdulhadi ; Baz, Salah ; Hamad, Muddathir ; Abalkhail, Tariq ; Alenazi, Badi ; Alkaff, Alya ; Almohareb, Fahad ; Al Mutairi, Fuad ; Alsaleh, Mona ; Alsonbul, Abdullah ; Alzelaye, Somaya ; Bahzad, Shakir ; Manee, Abdulaziz Bin ; Jarrad, Ola ; Meriki, Neama ; Albeirouti, Bassem ; Alqasmi, Amal ; AlBalwi, Mohammed ; Makhseed, Nawal ; Hassan, Saeed ; Salih, Isam ; Salih, Mustafa A. ; Shaheen, Marwan ; Sermin, Saadeh ; Shahrukh, Shamsad ; Hashmi, Shahrukh ; Shawli, Ayman ; Tajuddin, Ameen ; Tamim, Abdullah ; Alnahari, Ahmed ; Ghemlas, Ibrahim ; Hussein, Maged ; Wali, Sami ; Murad, Hatem ; Meyer, Brian F. ; Alkuraya, Fowzan S.

In The American Journal of Human Genetics 6 June 2019 104(6):1182-1201

Maddirevula, Sateesh ; Alzahrani, Fatema ; Al-Owain, Mohammed ; Al Muhaizea, Mohammad A. ; Kayyali, Husam R. ; AlHashem, Amal ; Rahbeeni, Zuhair ; Al-Otaibi, Maha ; Alzaidan, Hamad I. ; Balobaid, Ameera ; El Khashab, Heba Y. ; Bubshait, Dalal K. ; Faden, Maha ; Yamani, Suad Al ; Dabbagh, Omar ; Al-Mureikhi, Mariam ; Jasser, Abdulla Al ; Alsaif, Hessa S. ; Alluhaydan, Iram ; Seidahmed, Mohammed Zain ; Alabbasi, Bashair Hamza ; Almogarri, Ibrahim ; Kurdi, Wesam ; Akleh, Hana ; Qari, Alya ; Al Tala, Saeed M. ; Alhomaidi, Suzan ; Kentab, Amal Y. ; Salih, Mustafa A. ; Chedrawi, Aziza ; Alameer, Seham ; Tabarki, Brahim ; Shamseldin, Hanan E. ; Patel, Nisha ; Ibrahim, Niema ; Abdulwahab, Firdous ; Samira, Menasria ; Goljan, Ewa ; Abouelhoda, Mohamed ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; AlShahwan, Saad ; Alfadhel, Majid ; Ben-Omran, Tawfeg ; Al-Qattan, Mohammad M. ; Monies, Dorota ; Alkuraya, Fowzan S.

In Genetics in Medicine March 2019 21(3):736-742

Monies, Dorota ; Maddirevula, Sateesh ; Kurdi, Wesam ; Alanazy, Mohammed H. ; Alkhalidi, Hisham ; Al-Owain, Mohammed ; Sulaiman, Raashda A. ; Faqeih, Eissa ; Goljan, Ewa ; Ibrahim, Niema ; Abdulwahab, Firdous ; Hashem, Mais ; Abouelhoda, Mohamed ; Shaheen, Ranad ; Arold, Stefan T. ; Alkuraya, Fowzan S.

In Genetics in Medicine October 2017 19(10):1144-1150

Arbide, Daniel; Elkhateeb, Nour; Goljan, Ewa; Gonzalez, Carolina Perez; Maw, Anna; Park, Soo-Mi

Case Reports in Genetics. 1/2/2024, p1-5. 5p.

Monies, Dorota; Goljan, Ewa; Rapid Exome Consortium; Binmanee, Abdulaziz Mohammed; Alashwal, Abdullah Ali Zafir; Alsonbul, Abdullah Mohammed; Alhussaini, Abdulrahman A.; Abdallah, Alahmari Ali; Albenmousa, Ali Hussain; Almehaidib, Ali Ibrahim; Hassan, Ali Syed Akhtarul; Alharbi, Amal Salman Alseraihy; Alhabib, Amro; Podda, Antonello; Alsaleem, Badr; Al Saud, Bandar Bin Khalid; Bin Abbas, Bassam Saleh; Faqeih, Eissa Ali; Aljofan, Fahad Badei; Alhazzani, Fahad Naser

Genome Medicine. 6/21/2023, Vol. 15 Issue 1, p1-14. 14p.

Goljan, Ewa; Abouelhoda, Mohammed; ElKalioby, Mohamed M.; Jabaan, Amjad; Alghithi, Nada; Meyer, Brian F.; Monies, Dorota

PLoS ONE. 1/28/2022, Vol. 17 Issue 1, p1-15. 15p.

Goljan, Ewa; Abouelhoda, Mohammed; Tahir, Asma; ElKalioby, Mohamed; Meyer, Brian; Monies, Dorota

Human Genomics; 3/25/2024, Vol. 18 Issue 1, p1-8, 8p

Alzahrani, Ali S.; Alswailem, Meshael; Alswailem, Anwar Ali; Al-Hindi, Hindi; Goljan, Ewa; Alsudairy, Nourah; Abouelhoda, Mohamed

Journal of Clinical Endocrinology & Metabolism. October, 2020, Vol. 105 Issue 10, p1l, 11 p.

Monies, Dorota; Maddirevula, Sateesh; Kurdi, Wesam; Alanazy, Mohammed H.; Alkhalidi, Hisham; Al-Owain, Mohammed; Sulaiman, Raashda A.; Faqeih, Eissa; Goljan, Ewa; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Shaheen, Ranad; Arold, Stefan T.; Alkuraya, Fowzan S.

In Genetics in Medicine March 2018 20(3):380-380

Alsemari, Abdulaziz; Al-Younes, Banan; Goljan, Ewa; Jaroudi, Dyala; BinHumaid, Faisal; Meyer, Brian F.; Arold, Stefan T.; Monies, Dorota

Human Genomics; 11/14/2017, Vol. 11, p1-7, 7p

Monies, Dorota; Abouelhoda, Mohamed; AlSayed, Moeenaldeen; Alhassnan, Zuhair; Alotaibi, Maha; Kayyali, Husam; Al-Owain, Mohammed; Shah, Ayaz; Rahbeeni, Zuhair; Al-Muhaizea, Mohammad; Alzaidan, Hamad; Cupler, Edward; Bohlega, Saeed; Faqeih, Eissa; Faden, Maha; Alyounes, Banan; Jaroudi, Dyala; Goljan, Ewa; Elbardisy, Hadeel; Akilan, Asma

Human Genetics. Aug2017, Vol. 136 Issue 8, p921-939. 19p.

Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; KACST-BWH/Harvard Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia.; Almass R; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Al-Ahmadi N; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Department of Biology, Imam Abdulrahman bin Faisal University, Dammam 34212, Kingdom of Saudi Arabia.; Najafi M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany.; Al-Muhaizea MA; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.; Alzaidan H; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; AlDhalaan H; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.; Perenthaler E; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; van der Linde HC; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Kühn NA; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Antony D; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany.; Owaidah TM; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.; Raskin S; Positivo University Medical School, Curitiba, Parana, 81280-330, Brazil.; Vieira LGDR; Universidade da Região de Joinville, Pós-Graduação em Saúde e Meio Ambiente, Joinville, Santa Catarina, 89219-710.; Mombach R; Núcleo de Assistência Integral ao Paciente Especial, Prefeitura de Joinvile, Joinvile, Santa Catarina, 89202-450, Brazil.; Ahangari N; Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, 9177899191, Mashhad, Iran.; Silveira TRD; CENTOGENE GmbH, 18055 Rostock.; Ameziane N; CENTOGENE GmbH, 18055 Rostock.; Rolfs A; CENTOGENE GmbH, 18055 Rostock.; Medical University of Rostock, 18051 Rostock.; Alharbi A; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.; Sabbagh RM; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.; AlAhmadi K; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.; Alawam B; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Ghebeh H; Stem Cell and Tissue Re-engineering Program, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.; AlHargan A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Albader AA; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Binhumaid FS; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Goljan E; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Mustafa OM; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Aldosary M; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; AlBakheet A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Alyounes B; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Almutairi F; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Al-Odaib A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Aksoy DB; Gaziosmanpasa University, School of Medicine, Neurology Dept. Tokat, 8FJH+CW Tokat, Merkez/Tokat, Turkey.; Basak AN; Koc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, İstanbul, Turkey.; Palvadeau R; Koc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, İstanbul, Turkey.; Trabzuni D; Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, TX, USA.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, 9G58 + 69 Mashhad, Razavi Khorasan Province, Iran.; Meyer BF; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Kingdom of Saudi Arabia.; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Kingdom of Saudi Arabia.; Karakas B; Department of Molecular Oncology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.; Al-Mohanna F; Department of Cell Biology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.; Arold ST; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Kingdom of Saudi Arabia.; Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France.; Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Bertoli-Avella AM; CENTOGENE GmbH, 18055 Rostock.; Schmidts M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; Kaya N; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Kingdom of Saudi Arabia.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Monies, Dorota; Alhindi, Hindi N.; Almuhaizea, Mohamed A.; Abouelhoda, Mohamed; Alazami, Anas M.; Goljan, Ewa; Alyounes, Banan; Jaroudi, Dyala; AlIssa, Abdulelah; Alabdulrahman, Khalid; Subhani, Shazia; El-Kalioby, Mohamed; Faquih, Tariq; Wakil, Salma M.; Altassan, Nada A.; Meyer, Brian F.; Bohlega, Saeed

Human Genomics; 9/27/2016, Vol. 10, p1-7, 7p

Yemni, Eman Al; Monies, Dorota; Alkhairallah, Thamer; Bohlega, Saeed; Abouelhoda, Mohamed; Magrashi, Amna; Mustafa, Abeer; AlAbdulaziz, Basma; Alhamed, Mohamed; Baz, Batoul; Goljan, Ewa; Albar, Renad; Jabaan, Amjad; Faquih, Tariq; Subhani, Shazia; Ali, Wafa; Shinwari, Jameela; Al-Mubarak, Bashayer; Al-Tassan, Nada

Scientific Reports. 3/4/2019, Vol. 9 Issue 1, p1-1. 1p.

Robinson, Hannah; Stals, Karen; Mallin, Lucy; Lees, Hayley; Head, Nicholas; Pang, Lewis; Goljan, Ewa; Grumbt, Natasha; Hocking, Suzanne; Adams, Jessica; Woodhall, Verity; Wakeling, Matthew; Hill, Sue; Wright, Caroline; Ellard, Sian; Parrish, Andrew; Baple, Emma

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2024, 32 p1509-p1509, 1p. Supplement: 2

Alsemari, Abdulaziz; Al-Younes, Banan; Goljan, Ewa; Jaroudi, Dyala; BinHumaid, Faisal; Meyer, Brian F.; Arold, Stefan T.; Monies, Dorota

Human Genomics. December 8, 2017, Vol. 11 Issue 1

Al-Mubarak, Bashayer; Abouelhoda, Mohamed; Omar, Aisha; AlDhalaan, Hesham; Aldosari, Mohammed; Nester, Michael; Alshamrani, Hussain. A.; El-Kalioby, Mohamed; Goljan, Ewa; Albar, Renad; Subhani, Shazia; Tahir, Asma; Asfahani, Sultana; Eskandrani, Alaa; Almusaiab, Ahmed; Magrashi, Amna; Shinwari, Jameela; Monies, Dorota; Al Tassan, Nada

SCIENTIFIC REPORTS; JUL 18 2017, 7 p5679 14p.

Monies, Dorota; Goljan, Ewa; Assoum, Mirna; Albreacan, Muna; Binhumaid, Faisal; Subhani, Shazia; Boureggah, Abdulmlik; Hashem, Mais; Abdulwahab, Firdous; Abuyousef, Omar; Temsah, Mohamad H.; Alsohime, Fahad; Kelaher, James; Abouelhoda, Mohamed; Meyer, Brian F.; Alkuraya, Fowzan S.

Monies, Dorota; Goljan, Ewa; Abouelhoda, Mohamed; Meyer, Brian

EUROPEAN JOURNAL OF HUMAN GENETICS; APR 2022, 30 SUPPL 1, p516-p516, 1p. Supplement: 1