Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Najwa Elbashir"'
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:
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, Omayma, Al-Saei, Sujitha, Padmajeya, Waleed, Aamer, Najwa, Elbashir, Ammira, Al-Shabeeb Akil, Abdul-Rauf, Kamboh, Khalid, Fakhro
Publikováno v:
Cold Spring Harbor molecular case studies. 8(4)
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e2b42b181ef081214501ce564de4a536
https://pubmed.ncbi.nlm.nih.gov/35732499
https://pubmed.ncbi.nlm.nih.gov/35732499
Autor:
Alya A. Al-Kurbi, Sahar Isa Da'as, Waleed Aamer, Navaneethakrishnan Krishnamoorthy, Ilaria Poggiolini, Doua Abdelrahman, Najwa Elbashir, Ammira Al-Shabeeb Akil, Graeme E. Glass, Khalid A. Fakhro
Publikováno v:
European journal of medical genetics. 65(4)
Rare deletions and duplications on the long arm of Chromosome 21 have previously been reported in many patients with craniofacial and developmental phenotypes. However, this Down Syndrome Critical Region (DSCR) contains multiple genes, making identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a679b07f062930137294bd97cdd8f202
https://pubmed.ncbi.nlm.nih.gov/35182808
https://pubmed.ncbi.nlm.nih.gov/35182808