Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sasirekha Palaniswamy"'
Autor:
Aljazi Al-Maraghi, Waleed Aamer, Mubarak Ziab, Elbay Aliyev, Najwa Elbashir, Sura Hussein, Sasirekha Palaniswamy, Dhullipala Anand, Donald R. Love, Adrian Charles, Ammira A.S.Akil, Khalid A. Fakhro
Publikováno v:
BMC Nephrology, Vol 25, Iss 1, Pp 1-7 (2024)
Abstract Background Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin of RTD, involving vari
Externí odkaz:
https://doaj.org/article/de528bc7688d480ba9e4006bc299b114
Autor:
Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-17 (2024)
Abstract Background Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies. Methods He
Externí odkaz:
https://doaj.org/article/b4266c219952427a95b95677aa94733a
Autor:
Mona Abdi, Elbay Aliyev, Brett Trost, Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Rulan Shaath, Geethanjali Devadoss Gandhi, Worrawat Engchuan, Jennifer Howe, Bhooma Thiruvahindrapuram, Melissa Geng, Joe Whitney, Amira Syed, Jyothi Lakshmi, Sura Hussein, Najwa Albashir, Amal Hussein, Ilaria Poggiolini, Saba F. Elhag, Sasirekha Palaniswamy, Marios Kambouris, Maria de Fatima Janjua, Mohamed O. El Tahir, Ahsan Nazeer, Durre Shahwar, Muhammad Waqar Azeem, Younes Mokrab, Nazim Abdel Aati, Ammira Akil, Stephen W. Scherer, Madeeha Kamal, Khalid A. Fakhro
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children in Qatar was recently
Externí odkaz:
https://doaj.org/article/05529e45040b4a24a408cfbaedbd8c6f
Autor:
Rulan Shaath, Aljazi Al-Maraghi, Haytham Ali, Jehan AlRayahi, Adam D. Kennedy, Karen L. DeBalsi, Sura Hussein, Najwa Elbashir, Sujitha S. Padmajeya, Sasirekha Palaniswamy, Sarah H. Elsea, Ammira A. Akil, Noha A. Yousri, Khalid A. Fakhro
Publikováno v:
Metabolites, Vol 14, Iss 3, p 152 (2024)
Multi-omics approaches, which integrate genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools in the diagnosis of rare diseases. We used untargeted metabolomics and whole-genome sequencing (WGS) to gain a more compre
Externí odkaz:
https://doaj.org/article/363621f47bd04b7991f4b0b899d83913
Autor:
Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Sujitha Padmajeya, Sura Hussein, Amira Sayed, Jyothi Janardhanan, Sasirekha Palaniswamy, Nady El hajj, Ammira Al-Shabeeb Akil, Khalid A. Fakhro
Publikováno v:
Journal of Human Genetics. 67:579-588
While de novo mutations (DNMs) are key to genetic diversity, they are also responsible for a high number of rare disorders. To date, no study has systematically examined the rate and distribution of DNMs in multiplex families in highly consanguineous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94a01d1823cc3312dc08add306ae4f5
https://doi.org/10.1038/s10038-022-01054-9
https://doi.org/10.1038/s10038-022-01054-9
Autor:
Alya A. Al-Kurbi, Elbay Aliyev, Sana AlSa’afin, Waleed Aamer, Sasirekha Palaniswamy, Aljazi Al-Maraghi, Houda Kilani, Ammira Al-Shabeeb Akil, Mitchell A. Stotland, Khalid A. Fakhro
Publikováno v:
Genes. 14:849
Clefts of the lip and/or palate (CL/P) are considered the most common form of congenital anomalies occurring either in isolation or in association with other clinical features. Van der woude syndrome (VWS) is associated with about 2% of all CL/P case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d0c64e36bdbfc562696b6f757072660
https://doi.org/10.3390/genes14040849
https://doi.org/10.3390/genes14040849
Publikováno v:
5th International Conference on Visual Information Engineering (VIE 2008).
In this study, we present an automated system for feature recognition in digital images. Such a system is very important for morphometric analysis as it will replace the time consuming and labour intensive process of manual identification. The analys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b744dfc992511ac4fb0b378e6664373
https://doi.org/10.1049/cp:20080279
https://doi.org/10.1049/cp:20080279
Publikováno v:
BMVC
Our aim is to develop a completely automated and reliable system to identify morphological landmarks in digital images. The performance of the system is aimed to replicate manual digitization with equivalent accuracy and reliability, based upon a sma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d2c8478674b1793bef11eeeb0ec6add
https://doi.org/10.5244/c.21.77
https://doi.org/10.5244/c.21.77
Publikováno v:
IET Computer Vision. 4:247
The authors present an automated system for feature recognition in digital images. Morphometric landmarks are points that can be defined in all specimens and located precisely. They are widely used in shape analysis and a typical shape analysis study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de5a7138c89123e64a3b2884109a9de7
https://doi.org/10.1049/iet-cvi.2009.0014
https://doi.org/10.1049/iet-cvi.2009.0014