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American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2016, Volume 170, Issue 1, pp. 277 - 282
Journal Article
Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 12, pp. 1159 - 1169
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 03/2016, Volume 33, Issue 2, pp. e109 - e113
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2013, Volume 93, Issue 6, pp. 1001 - 1014
Journal Article
Neuroradiology, ISSN 0028-3940, 10/2018, Volume 60, Issue 10, pp. 1053 - 1061
Journal Article
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 5, pp. 686 - 696
Journal Article
by Monies, Dorota and Abouelhoda, Mohammed and Assoum, Mirna and Moghrabi, Nabil and Rafiullah, Rafiullah and Almontashiri, Naif and Alowain, Mohammed and Alzaidan, Hamad and Alsayed, Moeen and Subhani, Shazia and Cupler, Edward and Faden, Maha and Alhashem, Amal and Qari, Alya and Chedrawi, Aziza and Aldhalaan, Hisham and Kurdi, Wesam and Khan, Sameena and Rahbeeni, Zuhair and Alotaibi, Maha and Goljan, Ewa and Elbardisy, Hadeel and ElKalioby, Mohamed and Shah, Zeeshan and Alruwaili, Hibah and Jaafar, Amal and Albar, Ranad and Akilan, Asma and Tayeb, Hamsa and Tahir, Asma and Fawzy, Mohammed and Nasr, Mohammed and Makki, Shaza and Alfaifi, Abdullah and Akleh, Hanna and Yamani, Suad and Bubshait, Dalal and Mahnashi, Mohammed and Basha, Talal and Alsagheir, Afaf and Abu Khaled, Musad and Alsaleem, Khalid and Almugbel, Maisoon and Badawi, Manal and Bashiri, Fahad and Bohlega, Saeed and Sulaiman, Raashida and Tous, Ehab and Ahmed, Syed and Algoufi, Talal and Al-Mousa, Hamoud and Alaki, Emadia and Alhumaidi, Susan and Althagafi, Malak and Alghamdi, Hadeel and Alghamdi, Malak and Sahly, Ahmed and Nahrir, Shapar and Al-Ahmari, Ali and Alkuraya, Hisham and Alkuraya, Fowzan S and Almehaidib, Ali and Abanemai, Mohammed and Alsohaibaini, Fahad and Alsaud, Bandar and Arnaout, Rand and Abdel-Salam, Ghada M.H and Aldhekri, Hasan and AlKhater, Suzan and Alqadi, Khalid and Alsabban, Essam and Alshareef, Turki and Awartani, Khalid and Banjar, Hanaa and Alsahan, Nada and Abosoudah, Ibraheem and Alashwal, Abdullah and Aldekhail, Wajeeh and Alhajjar, Sami and Al-Mayouf, Sulaiman and Alsemari, Abdulaziz and Alshuaibi, Walaa and Altala, Saeed and Altalhi, Abdulhadi and Baz, Salah and Hamad, Muddathir and Abalkhail, Tariq and Alenazi, Badi and Alkaff, Alya and Almohareb, Fahad and Al Mutairi, Fuad and Alsaleh, Mona and Alsonbul, Abdullah and Alzelaye, Somaya and Bahzad, Shakir and Manee, Abdulaziz Bin and Jarrad, Ola and Meriki, Neama and Albeirouti, Bassem and Alqasmi, Amal and ...
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1182 - 1201
We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of... 
knockout | clinical genomics | hybrid phenotype | phenotypic expansion | multilocus phenotypes | fetal malformation | autozygome | genomics-first | exome | gonadal mosaicism | expanded carrier screening | candidate genes | first-tier | prenatal | dual diagnosis
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2019, Volume 179, Issue 3, pp. 494 - 497
Biallelic variants in the NDE1 gene have been shown to occur in extreme microcephaly. Most of the patients displayed microlissencephaly but one with... 
microcephaly | prenatal ultrasound | fusion of thalami | microhydranencephaly | microlissencephaly | NDE1 | GENETICS & HEREDITY | MUTATIONS | Pregnant women | Hypoplasia | Cerebellum | Phenotypes | Brain stem | Congenital defects | Fetuses | Cerebral hemispheres | Cerebrospinal fluid | Gestation | Corpus callosum | Microencephaly | Magnetic resonance imaging | Etiology | Hydranencephaly | Ultrasound
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 1875 - 1881
Journal Article