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Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
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
Annals of Neurology, ISSN 0364-5134, 06/2017, Volume 81, Issue 6, pp. 890 - 897
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 420 - 427
Purpose: The application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe... 
embryonic lethality | genomic autopsy | ETIOLOGY | VARIANTS | GENETICS & HEREDITY | MUTATIONS | IDENTIFICATION | DISCOVERY | Index Medicus
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 | Index Medicus
Journal Article
International Journal of Interactive Mobile Technologies, ISSN 1865-7923, 2017, Volume 11, Issue 6, pp. 123 - 135
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 9/2019, Volume 34, Issue 9, pp. 1615 - 1623
Polycystic kidney disease (PKD) is one of the most common genetic renal diseases and may be inherited in an autosomal dominant or autosomal recessive pattern.... 
Pediatrics | Nephrology | ADPKD | Biallelic mutations | Medicine & Public Health | Molecular genetics | Consanguinity | PKD1 | Urology | LINKAGE HETEROGENEITY | GENE | UROLOGY & NEPHROLOGY | PEDIATRICS | PHENOTYPES | DOSAGE | MANIFESTATIONS | Phenotypes | Kidneys | Sodium | Polycystic kidney | Genes | Alleles | Polycystic kidney disease 1 protein | Kidney diseases | Age | Mimicry | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2013, Volume 21, Issue 7, pp. 762 - 768
Journal Article
Saudi Medical Journal, ISSN 0379-5284, 09/2015, Volume 36, Issue 9, pp. 1122 - 1125
Objectives: To compare pregnancy outcomes between high-order multiple pregnancies resulting from assisted reproductive technology (ART) reduced to twins and... 
REDUCTION | MEDICINE, GENERAL & INTERNAL | MULTIFETAL PREGNANCY | Pregnancy | Saudi Arabia | Female | Humans | Pregnancy Outcome | Pregnancy, Twin | Pregnant women | Index Medicus | Brief Communication
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 01/2018, Volume 20, Issue 3, pp. 380 - 380
This corrects the article DOI: 10.1038/gim.2017.22. 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 736 - 742
Journal Article
Journal Article