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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
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
Journal of Clinical Neuroscience, ISSN 0967-5868, 2015, Volume 24, pp. 170 - 170
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
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 01/2019, Volume 62, Issue 1, pp. 39 - 43
Clinical whole exome sequencing (WES) yields a diagnosis in approximately 30% of patients evaluated for presumed genetic disorders. For unsolved cases,... 
Variation assessment | Unsolved exomes | Diagnostic yield | GUIDELINES | GENETICS & HEREDITY | MUTATIONS | DEFICIENCY | NEURONAL CEROID-LIPOFUSCINOSIS
Journal Article
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 | 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
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
Brain, ISSN 0006-8950, 03/2017, Volume 140, Issue 3, pp. 547 - 554
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 315 - 325
Journal Article