Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Abdulelah AlIssa"'
Autor:
Mohammed AlBalwi, Wafaa Eyaid, Fuad Al Mutairi, Ahmed Alfares, Majid Alfadhel, Saeed Alturki, Lamia Al subaie, Ali Alothaim, Ahmed Alahmad, Abdulrahman Alswaid, Ahmed Al Qudsi, Abdulelah Alissa, Taghrid Aloraini
Publikováno v:
Genetics in Medicine. 20:1328-1333
Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are used to diagnose genetic and inherited disorders. However, few studies comparing the detection rates of WES and WGS in clinical settings have been performed. Variant call format files
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d452fb329a59240055171f7fa42ccc84
https://doi.org/10.1038/gim.2018.41
https://doi.org/10.1038/gim.2018.41
Autor:
Monies, Dorota, Hindi Alhindi, Almuhaizea, Mohamed, Abouelhoda, Mohamed, Alazami, Anas, Goljan, Ewa, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Alabdulrahman, Khalid, Subhani, Shazia, El-Kalioby, Mohamed, Faquih, Tariq, Wakil, Salma, Altassan, Nada, Meyer, Brian, Bohlega, Saeed
Clinical characteristics and biopsy results of index cases for families studied. (DOCX 223 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e3b83147644d8b0c0e6e8eddf39319
Autor:
Monies, Dorota, Hindi Alhindi, Almuhaizea, Mohamed, Abouelhoda, Mohamed, Alazami, Anas, Goljan, Ewa, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Alabdulrahman, Khalid, Subhani, Shazia, El-Kalioby, Mohamed, Faquih, Tariq, Wakil, Salma, Altassan, Nada, Meyer, Brian, Bohlega, Saeed
Genes included in the neurological panel. (DOC 97 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951946ce305f2c77d65fd520632bcd24
Autor:
Batoul Baz, Hamad Al-Zaidan, Zuhair N. Al-Hassnan, Abdulelah AlIssa, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Faiqa Imtiaz, Rana Kattan, Nada Al Tassan, Mohammed Al-Owain, Asma I. Tahir, Tariq Faquih, Abeer E. Mustafa, Khushnooda Ramzan, Moeenaldeen Al-Sayed
Publikováno v:
Genes; Volume 9; Issue 5; Pages: 267
Genes, Vol 9, Iss 5, p 267 (2018)
Genes, Vol 9, Iss 5, p 267 (2018)
Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next generation sequencing (NGS) platforms, such as target panel-based sequencing, has enabled comprehens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62800c5836f91eda15c45fa129684cab
https://doi.org/10.3390/genes9050267
https://doi.org/10.3390/genes9050267
Autor:
Ali Alasmari, Bandar Al-Saud, Yong Xiong, Emad B. Abboud, Banan Al-Younes, Abeer Al-Mostafa, Ranad Shaheen, Abdulelah AlIssa, Ewa A. Naim, Mohammed A. Aldahmesh, Dorota Monies, Olga Buzovetsky, Niema Ibrahim, Mohamed Abouelhoda, Nada Al-Tassan, Ghada M H Abdel-Salam, Saleh Al-mohsen, Hisham Alkuraya, Hadeel Alsharif, Mohammed Al-Owain, Arif O. Khan, Asma Sunker, Mais Hashem, Sawsan R. Nowilaty, Selwa A.F. Al-Hazzaa, Firdous Abdulwahab, Shamsa Anazi, Hamad Al-Zaidan, Nisha Patel, Fowzan S. Alkuraya
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 18(6)
Retinal dystrophies (RD) are heterogeneous hereditary disorders of the retina that are usually progressive in nature. The aim of this study was to clinically and molecularly characterize a large cohort of RD patients. We have developed a next-generat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46369cd13a60ce989ac6d1806e07cd4c
https://pubmed.ncbi.nlm.nih.gov/26355662
https://pubmed.ncbi.nlm.nih.gov/26355662
Autor:
Shazia Subhani, Hindi Al-Hindi, Dorota Monies, Dyala Jaroudi, Tariq Faquih, Salma M. Wakil, Mohamed El-Kalioby, Khalid Alabdulrahman, Nada Al-Tassan, Abdulelah AlIssa, Mohamed Abouelhoda, Saeed Bohlega, Banan Al-Younes, Mohamed A. Al-Muhaizea, Brian F. Meyer, Ewa Goljan, Anas M. Alazami
Publikováno v:
Human Genomics
Background Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flankin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba395b3109cfb2ccf393389b8248063e