Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Heba Y. El Khashab"'
Autor:
Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al-Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al-Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad-Hani Temsah, Maha Tulbah, Rasha F. Aljelaify, Saad A. Alshahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al-Hassnan, Ghada M.H. Abdel-Salam, Nouriya Al-Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al-Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman A. Aldeeri, Dorota M. Monies, Fowzan S. Alkuraya
Publikováno v:
Cell Reports, Vol 10, Iss 2, Pp 148-161 (2015)
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mappi
Externí odkaz:
https://doaj.org/article/50640b009bf24893bb6eadc42e852726
Autor:
Mustafa A. Salih, Mohammed Z. Seidahmed, Heba Y. El Khashab, Muddathir H. Hamad, Thomas M. Bosley, Sabrina Burn, Angela Myers, Megan L. Landsverk, Patricia L. Crotwell, Kaya Bilguvar, Shrikant Mane, Michael C. Kruer
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 5 (2015)
Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes. Methods: We report a Saudi family
Externí odkaz:
https://doaj.org/article/a4dfd5789c5648738246a332b1f88dac
Autor:
Amal, Aldhilan, Afnan, Alhakeem, Sumayah, Al Hajjaj, Musaad, Abukhalid, Hisham, Aldhalaan, Ehab, Salah, Muhammed, Saeed, Sadia, Tabassum, Heba Y, El Khashab, Mohammed, Aljabri, El-Sayed, Ali, Ali, Alwadei, Khalid, Hundallah, Abdulaziz, Alghamdi, Wejdan, Hakami, Shatha, AlShafi, Fowzan S, Alkuraya, Naif, Alanazy, Mohammed Zain, Seidahmed, Majid, Alfadhel, Brahim, Tabarki
Publikováno v:
Pediatric Neurology. 134:78-82
Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of consanguinity.We r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b870bf0328fdf7d9e1b2668b1be8e321
https://doi.org/10.1016/j.pediatrneurol.2022.06.015
https://doi.org/10.1016/j.pediatrneurol.2022.06.015
Autor:
Wael A. Bahbah, Mostafa ElHodhod, Mohamed Salah, Fawaz AlRefaee, Muath AlTuraiki, Samira Mousa, Ali Al Mehaidib, Wafaa Helmi Ayesh, Ahmed N. El-Bazzar, Joseph El Haddad, Heba Y. El Khashab, Amr El Zawahry, Mohammed Hasosah, Sanaa Youssef Shaaban, Yvan Vandenplas
Publikováno v:
Nutrients; Volume 14; Issue 5; Pages: 1067
Background: Cow’s milk allergy (CMA) and cow’s milk intolerance (CMI) are the major cow’s milk disorders observed in infants and young children. This study investigates, for the first time, physician knowledge regarding CMA and CMI prevalence,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650deb67b253e7aad6073c241140d605
https://doi.org/10.3390/nu14051067
https://doi.org/10.3390/nu14051067
Publikováno v:
American Journal of Medical Genetics Part A. 185:604-607
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49d1ef7b7261692dc0ab168ef64de145
https://doi.org/10.1002/ajmg.a.61990
https://doi.org/10.1002/ajmg.a.61990
Autor:
Roar Fjær, Marivi N. Moen, Ying Sheng, Dag E. Undlien, El Hassan Hamdani, Robin Johansen Menchini, Farrukh A. Chaudhry, Kaja Kristine Selmer, Mustafa A. Salih, Heba Y. El Khashab, Jon K. Laerdahl, Magnus Dehli Vigeland, Bjørnar Hassel
Publikováno v:
Brain. 139:3109-3120
Progressive myoclonus epilepsy is a heterogeneous group of disorders characterized by myoclonic and tonic-clonic seizures, ataxia and cognitive decline. We here present two affected brothers. At 9 months of age the elder brother developed ataxia and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9950ddaa5c201e021e850e758d76431
https://doi.org/10.1093/brain/aww244
https://doi.org/10.1093/brain/aww244
Autor:
Fahad A. Bashiri, Saeed Hassan, Abdulrahman A A Al-Rasheed, Heba Y. El Khashab, Fahad B Albadr, Mustafa A. Salih, Muddathir H. Hamad, Amal Y. Kentab
Publikováno v:
Paediatrics and International Child Health. 37:222-226
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently identified auto-immune disorder characterised by severe memory deficit, a decreased level of consciousness, seizures, autonomic dysfunction and movement disorders. Three girls
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ac31db34e094ce0a7eef17257bfc71e
https://doi.org/10.1080/20469047.2016.1191852
https://doi.org/10.1080/20469047.2016.1191852
Autor:
Eissa Faqeih, Mustafa A. Salih, Mais Hashem, Hanan E. Shamseldin, Fowzan S. Alkuraya, Salma M. Wakil, Heba Y. El Khashab, Shams Anazi, Mohammad M. Al-Qattan, Haifa Alsedairy
Publikováno v:
American Journal of Medical Genetics Part A. 170:1245-1250
Limb reduction malformations are highly heterogeneous in their clinical presentation and so, predicting the underlying mutation on a clinical basis can be challenging. Molecular karyotyping is a powerful genomic tool that has quickly become the mains
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7e928b6450c089a89fab475b7d4229f
https://doi.org/10.1002/ajmg.a.37550
https://doi.org/10.1002/ajmg.a.37550
Autor:
Nawal Makhseed, Majid Alfadhel, Hanan E. Shamseldin, Nisha Patel, Eissa Faqeih, Sateesh Maddirevula, Jumanah Alshenaifi, Dorota Monies, Majed Dasouki, Mais Hashem, Rifaat Rawashdeh, Wesam Kurdi, Adnan Hadid, Nour Ewida, Zuhair Rahbeeni, Eman Alobeid, Mohammed Zain Seidahmed, Amal Y. Kentab, Saeed Al Tala, Shams Anazi, Niema Ibrahim, Rawda Sunbul, Mohammed Al-Owain, Turki Alkharfi, Ranad Shaheen, Dia A. Mohammed, Mohammad Abanemai, Nada Al Tassan, Rana Alomar, Abdulrahman Alswaid, Fowzan S. Alkuraya, Heba Y. El Khashab, Salwa M. Alkhalifi, Saud H. AlDubayan, Wafaa Eyaid, Amal Alhashem, Suha Atyani, Mohamed Abouelhoda, Hamad Al-Zaidan, Firdous Abdulwahab, Minnie Jacob, Alya Qari, Zuhair N. Al-Hassnan, Nadia Alhashemi, Tarfa Al-Sheddi
Publikováno v:
Clinical genetics. 95(2)
Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized patients with peroxisomal disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2d353841a8532bd0d1a86b9c7a1c1a6
https://pubmed.ncbi.nlm.nih.gov/30561787
https://pubmed.ncbi.nlm.nih.gov/30561787
Autor:
Seham Alameer, Mariam Almureikhi, Zuhair Rahbeeni, Mohamed Abouelhoda, Ameera Balobaid, Menasria Samira, Majid Alfadhel, Dalal K. Bubshait, Bashair Hamza Alabbasi, Mohammed Zain Seidahmed, Aziza Chedrawi, Dorota Monies, Hessa S. Alsaif, Hanan E. Shamseldin, Nisha Patel, Brahim Tabarki, Niema Ibrahim, Mohammad M. Al-Qattan, Suad Al Yamani, Hamad Al-Zaidan, Amal Y. Kentab, Iram Alluhaydan, Husam R. Kayyali, Maha Alotaibi, Abdulla Al Jasser, Maha Faden, Saeed Al Tala, Ewa Goljan, Firdous Abdulwahab, Brian F. Meyer, Suzan Alhomaidi, Ibrahim Almogarri, Mais Hashem, Wesam Kurdi, Heba Y. El Khashab, Sateesh Maddirevula, Amal Alhashem, Saad AlShahwan, Ranad Shaheen, Alya Qari, Mustafa A. Salih, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Fatema Alzahrani, Mohammed Al-Owain, Mohammad A. Al Muhaizea, Hana Akleh, Omar Dabbagh
Publikováno v:
Genetics in Medicine
Purpose Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput identification of novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb3524b768d420e369794467cab5605e
https://pubmed.ncbi.nlm.nih.gov/30237576
https://pubmed.ncbi.nlm.nih.gov/30237576