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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
Human Genetics, ISSN 0340-6717, 11/2017, Volume 136, Issue 11, pp. 1419 - 1429
Journal Article
Pediatric Neurology, ISSN 0887-8994, 05/2013, Volume 48, Issue 5, pp. 363 - 366
Types III and IV spinal muscular atrophy represent a diagnostic challenge due to the great variability in their presentation. We report a series of eight... 
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2014, Volume 85, Issue 9, pp. 1058 - 1060
To identify the molecular cause of the disease, either in one of the eight known nemaline myopathy genes not yet sequenced in the proband, or in a novel gene... 
SURGERY | DISRUPTION | GENE | PSYCHIATRY | CLINICAL NEUROLOGY | MUTATION | Base Sequence - genetics | Genetic Predisposition to Disease - genetics | Myopathies, Nemaline - genetics | Pedigree | Humans | Adult | Female | Infant | Male | Cofilin 2 - genetics | Sequence Deletion - genetics | Proteins | Disease | Biopsy | Genes | Ventilation | Mutation | Deoxyribonucleic acid--DNA
Journal Article
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 of neuropathology and experimental neurology, ISSN 0022-3069, 5/2014, Volume 73, Issue 5, pp. 425 - 441
Dystroglycanopathies are a subtype of congenital muscular dystrophy (CMD) of varying severity that can affect the brain and eyes, ranging from Walker-Warburg... 
Dystroglycanopathy | Agyria | Polymicrogyria | Congenital muscular dystrophy | Neuropathology | LARGE
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 05/2014, Volume 73, Issue 5, pp. 425 - 425
Dystroglycanopathies are a subtype of congenital muscular dystrophy of varying severity that can affect the brain and eyes, ranging from Walker-Warburg... 
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 05/2014, Volume 73, Issue 5, pp. 425 - 441
Journal Article
Journal of the Saudi Heart Association, ISSN 1016-7315, 04/2013, Volume 25, Issue 2, pp. 154 - 155
Duchene muscular dystrophy is an x-linked recessive progressive muscular disease. It presents in first year of life and is fatal by second decade mostly... 
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 04/2017, Volume 22, Issue 4, pp. 615 - 624
Journal Article