Rett syndrome: A classic presentation

Autor: Shahnaz Ibrahim, Shamshad Gulab Khan

Publikováno v: Journal of Pediatric Neurology. :191-194

We report a 3-year-old girl with characteristic clinical, electroencephalographic and neuroradiological features of Rett syndrome (RS) - an X-linked dominant, neurodevelopmental disorder caused by mutation in methyl-CpG binding protein 2 (MECP2) gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3e50f8b21906c2440830622c28fd6921
https://doi.org/10.1055/s-0035-1557441

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Autor: Hesham Aldhalaan, Hana Akleh, Saeed Bohlega, Imaduddin Kanaan, Fathiya Al-Murshedi, Sarar Mohamed, Mohammed AlQuaiz, Mohammad Shagrani, Fahad A. Bashiri, Fowzan S. Alkuraya, Banan Al-Younes, Saif Alshahrani, Maha Alotaibi, Saeed Hassan, Amal Alqassmi, Farrukh Sheikh, Fahad I. Alsohaibani, Edward Cupler, Saad AlShahwan, Majid Alfadhel, Dalal K. Bubshait, Aziza Chedrawi, Hamad Al-Mojalli, Adila Al-Kindy, Amal Alhashem, Mohammad A. Al-Muhaizea, Shamshad Gulab, Khalid Alsaleem, Maisoon Almugbel, Dorota Monies, Faisal Abaalkhail, Ahmed S Alenizi, Suad Alyamani, Abeer Al-Saegh, Ayaz Shah, Dyala Jaroudi, Khalid S. Alqadi, Maha Alnemer, Tariq Faquih, Renad Albar, Khalid Al-Thihli, Heba Y. El Khashab, Sulaiman M. Al-Mayouf, Moayad El-Haj, Brian F. Meyer, Hasan Al-Dhekri, Ibraheem F. Abosoudah, Zuhair Rahbeeni, A. Al-Ghonaium, Alya Qari, Asma Akilan, Mohammed Al-Owain, Nabil Moghrabi, Hamoud Al-Mousa, Amira Oshi, Taghreed Shuaib, Maha Faden, M. Al-Sebayel, Maha Tulbah, Ali Al-Mehaidib, Shazia Subhani, Raashda A Sulaiman, Wesam Kurdi, Hisham Alkuraya, Abdulaziz Al-Saman, Abdullah Alshanbary, Saeed Al Tala, Mustafa A. Salih, Wajeeh Aldekhail, Mohamed El-Kalioby, Zeeshan Shah, Mohammed Zain Seidahmed, Zuhair N. Al-Hassnan, Yasser Sabr, Tahani Alqasim, Moeenaldeen Al-Sayed, Abdullah Alsonbul, Hussien Elsiesy, Rand Arnaout, Saad Alsaadoun, Muddathir H. Hamad, Brahim Tabarki, Sami Al-Hajjar, Randa Bassiouni, Maged H. Hussein, Dieter C. Broering, Soher Balkhy, Abdullah Tamim, Mohamed Abouelhoda, Talal Algoufi, Nawal Makhseed, Ewa Goljan, Turki M. Alkharfy, Talal A. Basha, Bandar K. Al Saud, Eissa Faqeih, Hamad Al-Zaidan, Laszlo Szonyi, Husam R. Kayyali, Habiba Sultana, Suzan Alhomadi, Hadeel Elbardisy, Omar Dabbagh, Wafa Eyaid, Fuad Al Mutairi, Sameena Khan, Mohamed Ibrahim Khalil

Publikováno v: Human Genetics

In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78d7400f1ed91704112fd5669cc5c9c8
https://pubmed.ncbi.nlm.nih.gov/28600779

Cerebral Sinus Venous Thrombosis due to Asparaginase Therapy

Autor: Mohammed Bayoumi, Saleh S. Baeesa, Youssef Al-Said, Shamshad Gulab

Publikováno v: Case Reports in Hematology, Vol 2013 (2013)
Case Reports in Hematology

We report a 9-year-old boy with acute lymphoblastic leukemia (ALL) in high-risk group who suffered from left sided focal seizures and ipsilateral hemiparesis during his induction with Asparaginase chemotherapy. Superior sagittal sinus thrombosis and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5c80873f266d5ce95b8e18b0e40682
https://doaj.org/article/cad5b5e9b29e424ca4f0429592d46ba8

Frequency of intestinal parasitic infestation in children of 5-12 years of age in Abbottabad

Autor: Akbar K, Ahmed, Babar, Malik, Babar, Shaheen, Ghazala, Yasmeen, Junaid Babar, Dar, Altaf K, Mona, Shamshad, Gulab, Muhammad, Ayub

Publikováno v: Journal of Ayub Medical College, Abbottabad : JAMC. 15(2)

Worm infestation is a major problem in children from developing countries due to bad hygienic conditions. It produces nutritional deficiencies and anaemia in children, especially when hookworm infestation is present.This cross-sectional study deals w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::737cb7a41c7e5dc4389688895d398cd4
https://pubmed.ncbi.nlm.nih.gov/14552244