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Journal of Obstetrics and Gynaecology Canada, ISSN 1701-2163, 04/2019, Volume 41, Issue 4, pp. 492 - 494
Alpha-methylacetoacetic aciduria, an autosomal recessive disorder of isoleucine and ketone body metabolism, is caused by a mutation in the acetyl coenzyme A... 
mutation | Caesarean section | Alpha-methylacetoacetic aciduria | breech presentation | acidosis | pregnant woman
Journal Article
Neurosciences, ISSN 1319-6138, 01/2018, Volume 23, Issue 1, pp. 52 - 56
Primary hyperammonemic encephalopathy due to urea cycle disorders (UCD) typically manifests with episodic unresponsiveness and this clinical entity is not... 
II CITRULLINEMIA | FOOD-INTAKE | DEFICIENCY | CLINICAL NEUROLOGY
Journal Article
2010, ISBN 9780494675205
Most immortal human cells maintain their telomeres by up-regulating the enzyme telomerase. Approximately 10-15% of immortal cells maintain their telomere... 
Biology, Cell | Biology, Genetics
eBook
03/2010
Most immortal human cells maintain their telomeres by up-regulating the enzyme telomerase. Approximately 10-15% of immortal cells maintain their telomere... 
0369
Dissertation
Sultan Qaboos University medical journal, ISSN 2075-051X, 08/2014, Volume 14, Issue 3, pp. e409 - e411
Journal Article
by Monies, Dorota and Abouelhoda, Mohamed and AlSayed, Moeenaldeen and Alhassnan, Zuhair and Alotaibi, Maha and Kayyali, Husam and Al-Owain, Mohammed and Shah, Ayaz and Rahbeeni, Zuhair and Al-Muhaizea, Mohammad A and Alzaidan, Hamad I and Cupler, Edward and Bohlega, Saeed and Faqeih, Eissa and Faden, Maha and Alyounes, Banan and Jaroudi, Dyala and Goljan, Ewa and Elbardisy, Hadeel and Akilan, Asma and Albar, Renad and Aldhalaan, Hesham and Gulab, Shamshad and Chedrawi, Aziza and Al Saud, Bandar K and Kurdi, Wesam and Makhseed, Nawal and Alqasim, Tahani and El Khashab, Heba Y and Al-Mousa, Hamoud and Alhashem, Amal and Kanaan, Imaduddin and Algoufi, Talal and Alsaleem, Khalid and Basha, Talal A and Al-Murshedi, Fathiya and Khan, Sameena and Al-Kindy, Adila and Alnemer, Maha and Al-Hajjar, Sami and Alyamani, Suad and Aldhekri, Hasan and Al-Mehaidib, Ali and Arnaout, Rand and Dabbagh, Omar and Shagrani, Mohammad and Broering, Dieter and Tulbah, Maha and Alqassmi, Amal and Almugbel, Maisoon and AlQuaiz, Mohammed and Alsaman, Abdulaziz and Al-Thihli, Khalid and Sulaiman, Raashda A and Al-Dekhail, Wajeeh and Alsaegh, Abeer and Bashiri, Fahad A and Qari, Alya and Alhomadi, Suzan and Alkuraya, Hisham and Alsebayel, Mohammed and Hamad, Muddathir H and Szonyi, Laszlo and Abaalkhail, Faisal and Al-Mayouf, Sulaiman M and Almojalli, Hamad and Alqadi, Khalid S and Elsiesy, Hussien and Shuaib, Taghreed M and Seidahmed, Mohammed Zain and Abosoudah, Ibraheem and Akleh, Hana and AlGhonaium, Abdulaziz and Alkharfy, Turki M and Al Mutairi, Fuad and Eyaid, Wafa and Alshanbary, Abdullah and Sheikh, Farrukh R and Alsohaibani, Fahad I and Alsonbul, Abdullah and Al Tala, Saeed and Balkhy, Soher and Bassiouni, Randa and Alenizi, Ahmed S and Hussein, Maged H and Hassan, Saeed and Khalil, Mohamed and Tabarki, Brahim and Alshahwan, Saad and Oshi, Amira and Sabr, Yasser and Alsaadoun, Saad and Salih, Mustafa A and Mohamed, Sarar and Sultana, Habiba and Tamim, Abdullah and El-Haj, Moayad and Alshahrani, Saif and Bubshait, Dalal K and Alfadhel, Majid and ...
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 921 - 939
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2018, Volume 94, Issue 6, pp. 495 - 501
Recently, with the advancement in next generation sequencing (NGS) along with the improvement of bioinformatics tools, whole exome sequencing (WES) has become... 
RIC3 | diagnostic yield | DNAH14 | variant interpretation | DRG1 | SYCL2 | whole‐exome sequencing | LIN7B | ID | whole-exome sequencing | GENE DISCOVERY | DIAGNOSIS | POLYADENOSINE RNA | VARIANTS | HUMANS | DISORDERS | RNA-BINDING PROTEIN | CONSANGUINEOUS FAMILIES | DISEASE | GENETICS & HEREDITY | Phenotypes | Next-generation sequencing | Intellectual disabilities | Bioinformatics
Journal Article
Human Genetics, ISSN 0340-6717, 11/2017, Volume 136, Issue 11, pp. 1419 - 1429
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | SLC12A2 | PROTEIN | VARIANTS | MUTATION | DISEASE | GENETICS & HEREDITY | NKCC1 | EXCHANGE | BRAIN | INSIGHTS | Medicine, Experimental | Medical colleges | Medical research | Brain | Disease susceptibility | Genetic aspects | Gene mapping | Dimethylaniline monooxygenase (N-oxide-forming) | Intellectual disabilities
Journal Article
Human Mutation, ISSN 1059-7794, 2017, Volume 38, Issue 6, pp. 692 - 703
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 8/2015, Volume 45, Issue 8, pp. 2323 - 2328
Journal Article
Journal of Perinatal Medicine, ISSN 0300-5577, 11/2018, Volume 46, Issue 9, pp. 968 - 974
Journal Article
by Anazi, Shams and Anazi, Shams and Maddirevula, Sateesh and Maddirevula, Sateesh and Salpietro, Vincenzo and Salpietro, Vincenzo and Asi, Yasmine T and Asi, Yasmine T and Alsahli, Saud and Alsahli, Saud and Alhashem, Amal and Alhashem, Amal and Shamseldin, Hanan E and Shamseldin, Hanan E and AlZahrani, Fatema and AlZahrani, Fatema and Patel, Nisha and Patel, Nisha and Ibrahim, Niema and Ibrahim, Niema and Abdulwahab, Firdous M and Abdulwahab, Firdous M and Hashem, Mais and Hashem, Mais and Alhashmi, Nadia and Alhashmi, Nadia and Al Murshedi, Fathiya and Al Murshedi, Fathiya and Al Kindy, Adila and Al Kindy, Adila and Alshaer, Ahmad and Alshaer, Ahmad and Rumayyan, Ahmed and Rumayyan, Ahmed and Al Tala, Saeed and Al Tala, Saeed and Kurdi, Wesam and Kurdi, Wesam and Alsaman, Abdulaziz and Alsaman, Abdulaziz and Alasmari, Ali and Alasmari, Ali and Banu, Selina and Banu, Selina and Sultan, Tipu and Sultan, Tipu and Saleh, Mohammed M and Saleh, Mohammed M and Alkuraya, Hisham and Alkuraya, Hisham and Salih, Mustafa A and Salih, Mustafa A and Aldhalaan, Hesham and Aldhalaan, Hesham and Ben-Omran, Tawfeg and Ben-Omran, Tawfeg and Al Musafri, Fatima and Al Musafri, Fatima and Ali, Rehab and Ali, Rehab and Suleiman, Jehan and Suleiman, Jehan and Tabarki, Brahim and Tabarki, Brahim and El-Hattab, Ayman W and El-Hattab, Ayman W and Bupp, Caleb and Bupp, Caleb and Alfadhel, Majid and Alfadhel, Majid and Al Tassan, Nada and Al Tassan, Nada and Monies, Dorota and Monies, Dorota and Arold, Stefan T and Arold, Stefan T and Abouelhoda, Mohamed and Abouelhoda, Mohamed and Lashley, Tammaryn and Lashley, Tammaryn and Houlden, Henry and Houlden, Henry and Faqeih, Eissa and Faqeih, Eissa and Alkuraya, Fowzan S and Alkuraya, Fowzan S
Human Genetics, ISSN 0340-6717, 1/2018, Volume 137, Issue 1, pp. 105 - 109
Variant nomenclature discrepancy was identified in the article. 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Medical colleges | Intellectual disabilities | Nomenclature
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2018, Volume 176, Issue 3, pp. 715 - 721
Journal Article