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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
Journal of Genetic Counseling, ISSN 1059-7700, 04/2015, Volume 24, Issue 2, pp. 373 - 373
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
Sultan Qaboos University Medical Journal, ISSN 2075-051X, 01/2013, Volume 13, Issue 2, pp. 301 - 305
Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of... 
DIAGNOSIS | المفاصل | حديثو الولادة | JOINTS (ANATOMY) | الأطفال | BONE DISEASES | عمان | التشخيص | أمراض العظام | NEWBORNS | OMAN | CHILDREN | Case report | Stuve-Weidemann syndrome | Schwartz-Jampel syndrome | Myotonia | Oman | Pyrexia | Case Report
Journal Article
Sultan Qaboos University Medical Journal, ISSN 2075-051X, 2015, Volume 15, Issue 3, pp. e415 - e419
The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report... 
Array comparative genomic hybridization | Case report | Chromosome 7 | Craniofacial abnormalities | Duplication 7p | Autism spectrum disorder | Oman | Autism | Autism Spectrum Disorder | Craniofacial Abnormalities | Array Comparative Genomic Hybridization | Online Case Report | Case Report
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 12/2013, Volume 2, Issue 4, pp. 197 - 201
Abstract Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe... 
Case Report | FISH | Warkany syndrome | Dysmorphic features | Trisomy 8 mosaicism | trisomy 8 mosaicism
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 09/2013, Volume 2, Issue 3, pp. 141 - 146
Abstract Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech... 
Case Report | Trisomy 18q syndrome | De Grouchy syndrome | Monosomy 18p syndrome | 18p- syndrome | Mosaic 18p-/i(18q) syndrome | monosomy 18p syndrome | mosaic 18p | trisomy 18q syndrome | i(18q) syndrome | de Grouchy syndrome
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 01/2013, Volume 2, Issue 4, pp. 197 - 201
Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations.... 
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 01/2013, Volume 2, Issue 3, pp. 141 - 146
Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental... 
Journal Article
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