Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population von AlHarthi, Fawz S., Qari, Alya, Edress, Alaa, Abedalthagafi, Malak

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Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population von Al‐Hamed, Mohamed H., Qari, Alya, Alrayes, Lamya, Alotaibi, Mohammed, Al Masseri, Zainab, Alotaibi, Afaf, AlAshwal, Abdullah, AlHassnan, Zuhair N., Alsagheir, Afaf

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SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion von Aldosary, Mazhor, Baselm, Shahad, Abdulrahim, Maha, Almass, Rawan, Alsagob, Maysoon, AlMasseri, Zainab, Huma, Rozeena, AlQuait, Laila, Al‐Shidi, Tarfa, Al‐Obeid, Eman, AlBakheet, Albandary, Alahideb, Basma, Alahaidib, Lujane, Qari, Alya, Taylor, Robert W., Colak, Dilek, AlSayed, Moeenaldeen D., Kaya, Namik

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A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families von Aldosary, Mazhor, Alsagob, Maysoon, AlQudairy, Hanan, González-Álvarez, Ana C, Arold, Stefan T, Dababo, Mohammad Anas, Alharbi, Omar A, Almass, Rawan, AlBakheet, AlBandary, AlSarar, Dalia, Qari, Alya, Al-Ansari, Mysoon M, Oláhová, Monika, Al-Shahrani, Saif A, AlSayed, Moeenaldeen, Colak, Dilek, Taylor, Robert W, AlOwain, Mohammed, Kaya, Namik

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The Development of Genetic Counseling Services and Training Program in Saudi Arabia von Qari, Alya A., Balobaid, Ameera S., Rawashdeh, Rifaat R., Al-Sayed, Moeenaldeen D.

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Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia von Balobaid, Ameera, Qari, Alya, Al-Zaidan, Hamad

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Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease von Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad, Al-Amoudi, Mohammad, Qari, Alya, Balobaid, Ameera, Al-Sayed, Moeenaldeen

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Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin von Imtiaz, Faiqa, Rashed, Mohamed S., Al-Mubarak, Bashayer, Allam, Rabab, El-Karaksy, Hanaa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Meyer, Brian F., Al-Sayed, Moeen

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Molecular autopsy in maternal–fetal medicine von Shamseldin, Hanan E, Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa, Alkuraya, Fowzan S

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The morbid genome of ciliopathies: an update von Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al–Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al–Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S.

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Autozygome and high throughput confirmation of disease genes candidacy von 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.

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Ethical solicitude in medical genetics as perceived from a genetic counselor's perspective in the tribal-based community of Saudi Arabia von Alya Qari, Moeen Al-Sayed, Zuhair Al-Hassnan, Amin Kashmeery

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Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay von Al-Sayed, Moeenaldeen D., Al-Zaidan, Hamad, Albakheet, AlBandary, Hakami, Hana, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Qari, Alya, Al-Sheddi, Tarfa, Al-Muheiza, Muhammed, Al-Qubbaj, Wafa, Lakmache, Yamina, Al-Hindi, Hindi, Ghaziuddin, Muhammad, Colak, Dilek, Kaya, Namik

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Ethical solicitude in medical genetics as perceived from a genetic counselor’s perspective in the tribal-based community of Saudi Arabia von Qari, Alya, Al-Sayed, Moeen, Al-Hassnan, Zuhair, Kashmeery, Amin

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Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population von AlHarthi, Fawz S, Qari, Alya, Edress, Alaa, Abedalthagafi, Malak

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The morbid genome of ciliopathies: an update von Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Mohammed Alghamdi, Jameel, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al-Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al-Owain, Mohammed, Sogaty, Sameera, Zain Seidahmed, Mohammed, Alkuraya, Fowzan S.

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KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability von Kaya, Namik, Alsagob, Maysoon, D'Adamo, Maria Cristina, Al-Bakheet, Albandary, Hasan, Sonia, Muccioli, Maria, Almutairi, Faten B, Almass, Rawan, Aldosary, Mazhor, Monies, Dorota, Mustafa, Osama M, Alyounes, Banan, Kenana, Rosan, Al-Zahrani, Jawaher, Naim, Eva, Binhumaid, Faisal S, Qari, Alya, Almutairi, Fatema, Meyer, Brian, Plageman, Timothy F, Pessia, Mauro, Colak, Dilek, Al-Owain, Mohammed

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Novel pathogenic MAPKBP1 variant in a family with nephronophthisis von Al-Hamed, Mohamed H, Alzaidan, Hamad, Hussein, Maged, Albaik, Lina, Qari, Alya, Sayer, John A, Imtiaz, Faiqa

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The many faces of peroxisomal disorders: Lessons from a large Arab cohort von Alshenaifi, Jumanah, Ewida, Nour, Anazi, Shams, Shamseldin, Hanan E., Patel, Nisha, Maddirevula, Sateesh, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Jacob, Minnie, Alhashem, Amal, Alzaidan, Hamad I., Seidahmed, Mohammed Z., Alhashemi, Nadia, Rawashdeh, Rifaat, Eyaid, Wafaa, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair, Alswaid, Abdulrahman, Hadid, Adnan, Qari, Alya, Mohammed, Dia A., El Khashab, Heba Y., Alfadhel, Majid, Abanemai, Mohammad, Sunbul, Rawda, Al Tala, Saeed, Alkhalifi, Salwa, Alkharfi, Turki, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, AlDubayan, Saud H., Kurdi, Wesam, Al‐Owain, Mohammed, Dasouki, Majed J., Kentab, Amal Y., Atyani, Suha, Makhseed, Nawal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

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Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome von Al-Ashwal, Abdullah A., Al-Sagheir, Afaf, Ramzan, Khushnooda, Al-Owain, Mohammed, Allam, Rabab, Qari, Alya, Al-Numair, Nouf S., Imtiaz, Faiqa

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