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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
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1235 - 1240
Cardiomyopathies are clinically heterogeneous disorders and are the leading cause of cardiovascular morbidity and mortality. Different etiologies have a... 
hypertrophic | dilated | ALPK3 | cardiomyopathy | GENETICS & HEREDITY | Cardiomyopathy | Development and progression | Heart diseases | Heart | Phenotypes | Dilated cardiomyopathy | Children | Ventricle | Cardiovascular diseases | Morbidity
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 | ID | Phenotypes | Next-generation sequencing | Intellectual disabilities | Bioinformatics
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
The Neurodiagnostic journal, ISSN 2164-6821, 08/2019, p. 1
Nonketotic hyperglycinemia (NKH) or glycine encephalopathy is an autosomal recessive disorder of glycine metabolism resulting in an excessive accumulation of... 
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 03/2014, Volume 37, Issue 2, p. 207
A retrospective study was completed for adult patients (investigated between 2003 and 2011) meeting the inclusion criteria of a history of recurrent... 
Enzymes | Oxidation-reduction reaction | Adults | Rhabdomyolysis | Fatty acids | Analysis
Journal Article
Oman Journal of Ophthalmology, ISSN 0974-620X, 01/2019, Volume 12, Issue 1, pp. 37 - 41
Journal Article
The Neurodiagnostic Journal, ISSN 2164-6821, 07/2019, Volume 59, Issue 3, pp. 142 - 151
Nonketotic hyperglycinemia (NKH) or glycine encephalopathy is an autosomal recessive disorder of glycine metabolism resulting in an excessive accumulation of... 
refractory seizures | EEG | epileptic encephalopathy | Burst-suppression | nonketotic hyperglycinemia (NKH)
Journal Article