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Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology, ISSN 0951-3590, 07/2019, pp. 1 - 3
Perrault syndrome is a rare autosomal recessive disorder that affects both males and females. The syndrome causes deafness in males, however females display... 
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 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 AlBalwi, Mohammed 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 | Usage | Phenotype | Care and treatment | Analysis | Mosaicism | Genetic aspects | Nucleotide sequencing | DNA sequencing
Journal Article
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