المؤلفون: Al-Hassnan, Zuhair^{Aff1, IDs13023023029670_cor1}, Al Hashmi, Nadia, Makhseed, Nawal, Omran, Tawfeg Ben^{Aff4, Aff5}, Al Jasmi, Fatma^{Aff6, Aff7}, Al Teneiji, Amal

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Aburezq, Maryam, Alahmad, Ahmad, Alsafi, Rasha, Al-Tawari, Asma, Ramadan, Dina, Shafik, Magdy, Abdelaty, Omar, Makhseed, Nawal, Elshafie, Reem, Ayed, Mariam, Hayat, Abrar, Dashti, Fatima, Marafi, Dana^{Aff2, Aff10}, Albash, Buthaina, Bastaki, Laila, Alsharhan, Hind^{Aff1, Aff2, Aff10, Aff11, IDs1302302302888y_cor16}

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Al-Hassnan, Zuhair^{Aff1, IDs1302302202545w_cor1}, Hashmi, Nadia Al, Makhseed, Nawal, Omran, Tawfeg Ben^{Aff4, Aff5}, Al Jasmi, Fatma^{Aff6, Aff7}, Teneiji, Amal Al

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Musa, Sara^Aff13, Eyaid, Wafaa^Aff14, Kamer, Kimberli^{Aff15, Aff16}, Ali, Rehab^Aff13, Al-Mureikhi, Mariam^Aff13, Shahbeck, Noora^Aff13, Al Mesaifri, Fatma^Aff13, Makhseed, Nawal^Aff17, Mohamed, Zakkiriah^Aff18, AlShehhi, Wafaa Ali^Aff19, Mootha, Vamsi K.^{Aff15, Aff16}, Juusola, Jane^Aff20, Ben-Omran, Tawfeg^Aff13

المساهمون: Baumgartner, Matthias, Series Editor^{Aff1, Aff8}, Patterson, Marc, Series Editor^{Aff2, Aff9}, Rahman, Shamima, Series Editor^{Aff3, Aff10}, Peters, Verena, Series Editor^{Aff4, Aff12}, Morava, Eva, Editor-in-Chief^{Aff5, Aff7}, Zschocke, Johannes, Series Editor^{Aff6, Aff11}

المصدر: JIMD Reports, Volume 43. 43:79-83

المؤلفون: Rosti, Rasim O, Dikoglu, Esra, Zaki, Maha S, Abdel-Salam, Ghada, Makhseed, Nawal, Sese, Jordan C, Musaev, Damir, Rosti, Basak, Harbert, Mary J, Jones, Marilyn C, Vaux, Keith K, Gleeson, Joseph G

المصدر: American Journal of Medical Genetics Part A. 170(4)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Congenital Structural Anomalies, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Clinical Research, Pediatric, Neurosciences, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Congenital, Cohort Studies, Exome, Facies, Female, Genetic Association Studies, Hernia, Hiatal, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Male, Microcephaly, Models, Molecular, Mutation, Missense, Nephrosis, Pedigree, Phenotype, Protein Conformation, Proteins, Galloway-Mowat syndrome, cerebellar atrophy, coarse face, WDR73, nephrotic syndrome, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2vj75585

المؤلفون: Shamseldin, Hanan E., Makhseed, Nawal, Ibrahim, Niema, Al-Sheddi, Tarfa, Alobeid, Eman, Abdulwahab, Firdous, Alkuraya, Fowzan S.^{Aff1, Aff3}

المصدر: Human Genetics. 138(3):221-229

المؤلفون: Cozma, Claudia^Aff1, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A., Alhashem, Amal M.^{Aff4, Aff5}, Ben-Omran, Tawfeg, Mahmoud, Iman G., Al Menabawy, Nihal M., Al-Mureikhi, Mariam, Martin, Magi, Demuth, Laura, Yüksel, Zafer, Beetz, Christian, Bauer, Peter, Rolfs, Arndt^{Aff1, Aff7}

المصدر: Orphanet Journal of Rare Diseases. 14(1)

المؤلفون: Zielonka, Matthias^Aff8, Makhseed, Nawal^Aff9, Blau, Nenad^Aff8, Bettendorf, Markus^Aff10, Hoffmann, Georg Friedrich^Aff8, Opladen, Thomas^Aff8

المساهمون: Zschocke, Johannes, Editor-in-chief^{Aff1, Aff2}, Baumgartner, Matthias, editor^Aff3, Morava, Eva, editor^Aff4, Patterson, Marc, editor^Aff5, Rahman, Shamima, editor^Aff6, Peters, Verena, editor^Aff7

المصدر: JIMD Reports, Volume 24. 24:109-113

المؤلفون: Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hamad I., Cupler, Edward, Bohlega, Saeed, Faqeih, Eissa, Faden, Maha, Alyounes, Banan, Jaroudi, Dyala, Goljan, Ewa, Elbardisy, Hadeel, Akilan, Asma, Albar, Renad, Aldhalaan, Hesham, Gulab, Shamshad, Chedrawi, Aziza, Al Saud, Bandar K, Kurdi, Wesam, Makhseed, Nawal, Alqasim, Tahani, El Khashab, Heba Y., Al-Mousa, Hamoud, Alhashem, Amal, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Khan, Sameena, Al-Kindy, Adila, Alnemer, Maha, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Tulbah, Maha, Alqassmi, Amal, Almugbel, Maisoon, AlQuaiz, Mohammed, Alsaman, Abdulaziz, Al-Thihli, Khalid, Sulaiman, Raashda A., Al-Dekhail, Wajeeh, Alsaegh, Abeer, Bashiri, Fahad A., Qari, Alya, Alhomadi, Suzan, Alkuraya, Hisham, Alsebayel, Mohammed, Hamad, Muddathir H, Szonyi, Laszlo, Abaalkhail, Faisal, Al-Mayouf, Sulaiman M., Almojalli, Hamad, Alqadi, Khalid S., Elsiesy, Hussien, Shuaib, Taghreed M., Seidahmed, Mohammed Zain, Abosoudah, Ibraheem, Akleh, Hana, AlGhonaium, Abdulaziz, Alkharfy, Turki M., Al Mutairi, Fuad, Eyaid, Wafa, Alshanbary, Abdullah, Sheikh, Farrukh R., Alsohaibani, Fahad I., Alsonbul, Abdullah, Al Tala, Saeed, Balkhy, Soher, Bassiouni, Randa, Alenizi, Ahmed S., Hussein, Maged H., Hassan, Saeed, Khalil, Mohamed, Tabarki, Brahim, Alshahwan, Saad, Oshi, Amira, Sabr, Yasser, Alsaadoun, Saad, Salih, Mustafa A., Mohamed, Sarar, Sultana, Habiba, Tamim, Abdullah, El-Haj, Moayad, Alshahrani, Saif, Bubshait, Dalal K., Alfadhel, Majid, Faquih, Tariq, El-Kalioby, Mohamed, Subhani, Shazia, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.

المصدر: Human Genetics. August 2017 136(8):921-939

المؤلفون: Al-Dirbashi, Osama Y.^{Aff8, Aff9}, McIntosh, Nathan^Aff8, McRoberts, Christine^Aff8, Fisher, Larry^Aff8, Rashed, Mohamed S.^Aff10, Makhseed, Nawal^Aff11, Geraghty, Michael T.^{Aff8, Aff9}, Santa, Tomofumi^Aff12, Chakraborty, Pranesh^{Aff8, Aff9}

المساهمون: Zschocke, Johannes, Editor-in-chief^{Aff1, Aff3}, Gibson, K Michael, Editor-in-chief^Aff2, Gibson, K. Michael, editor^Aff4, Brown, Garry, editor^Aff5, Morava, Eva, editor^Aff6, Peters, Verena, editor^Aff7

المصدر: JIMD Reports Volume 16. 16:65-73