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	1.	Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease. [electronic resource] by Al-Allaf, Faisal A Athar, Mohammad Abduljaleel, Zainularifeen Taher, Mohiuddin M Khan, Wajahatullah Ba-Hammam, Faisal A Abalkhail, Hala Alashwal, Abdullah Producer: 20150702 In: Gene vol. 565 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient. [electronic resource] by Al-Allaf, Faisal A Alashwal, Abdullah Abduljaleel, Zainularifeen Taher, Mohiuddin M Bouazzaoui, Abdellatif Abalkhail, Hala Al-Allaf, Ahmad F Athar, Mohammad Producer: 20170417 In: Acta biochimica Polonica vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation. [electronic resource] by Faiyaz-Ul-Haque, Muhammad AlDhalaan, Waheeb AlAshwal, Abdullah Bin-Abbas, Bassam S AlSagheir, Afaf Alotaiby, Maram Rafiq, Zulqurnain Zaidi, Syed H E Producer: 20181127 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia. [electronic resource] by Al-Allaf, Faisal A Athar, Mohammad Abduljaleel, Zainularifeen Bouazzaoui, Abdellatif Taher, Mohiuddin M Own, Rakan Al-Allaf, Ahmad F AbuMansour, Iman Azhar, Zohor Ba-Hammam, Faisal A Abalkhail, Hala Alashwal, Abdullah Producer: 20160415 In: Human genome variation vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children. [electronic resource] by Al-Allaf, Faisal A Alashwal, Abdullah Abduljaleel, Zainularifeen Taher, Mohiuddin M Siddiqui, Shahid S Bouazzaoui, Abdellatif Abalkhail, Hala Aun, Rakan Al-Allaf, Ahmad F AbuMansour, Iman Azhar, Zohor Ba-Hammam, Faisal A Khan, Wajahatullah Athar, Mohammad Producer: 20161020 In: Genomics vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. [electronic resource] by 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 Khaled, Musad Abu 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 Publication details: American journal of human genetics Oct 2019 In: American journal of human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. [electronic resource] by 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 Producer: 20200311 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)