Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Laila Alquait"'
Autor:
Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al‐Shidi, Eman Al‐Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W. Taylor, Dilek Colak, Moeenaldeen D. AlSayed, Namik Kaya
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)
Abstract SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy,
Externí odkaz:
https://doaj.org/article/48917f01742c4d66a01fabd9bebcdbd0
Autor:
Abdullah M. Aldalaan, Khushnooda Ramzan, Sarfraz A. Saleemi, Ihab Weheba, Laila Alquait, Abeer Abdelsayed, Fatima Alzubi, Hamdeia Zaytoun, Nadeen Alharbi, Mohammed Al-Owain, Faiqa Imtiaz
Publikováno v:
Pulmonary Circulation, Vol 11 (2021)
Pulmonary arterial hypertension (PAH), whether idiopathic PAH (IPAH), heritable PAH, or associated with other conditions, is a rare and potentially lethal disease characterized by progressive vascular changes. To date, there is limited data on the ge
Externí odkaz:
https://doaj.org/article/ec4b63c248e24273b81cf5dc71462595
Autor:
Zuhair N. Al-Hassnan, Waad Albawardi, Faten Almutairi, Rawan AlMass, Albandary AlBakheet, Osama M. Mustafa, Laila AlQuait, Zarghuna M. A. Shinwari, Salma Wakil, Mustafa A. Salih, Majid Al-Fayyadh, Saeed M. Hassan, Mansour Aljoufan, Osima Al-Nakhli, Brynn Levy, Balsam AlMaarik, Hana A. Al-Hakami, Maysoon Alsagob, Dilek Colak, Namik Kaya
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-11 (2018)
Abstract Background Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have been frequently associ
Externí odkaz:
https://doaj.org/article/238fd9ac89634a798995c2454c74671b
Autor:
Dilek Colak, Mazhor Al-Dosary, Hesham Aldhalaan, Namik Kaya, Maha Al-Rasheed, Maysoon Alsagob, Hadeel Jaber, Musaad Abukhalid, Hadeel Alkofide, Mohammed A. AlMuhaizea, Rawan Almass, Laila AlQuait, Albandary Al-Bakheet, Felwa Binhumaid, Hanouf Aldeeb
Publikováno v:
Annals of Human Genetics. 86:34-44
Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late-first or early-second decade of life with mixed moveme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24bd77b7f7aeaca1e3711976331bf0c5
https://doi.org/10.1111/ahg.12445
https://doi.org/10.1111/ahg.12445
Autor:
Laila AlQuait, Alaa Edrees, Haya Al‐Joudi, Sameena Khan, Hamoud Al-Mousa, Aziza Chedrawi, Rawan Almass, Mazhor Al-Dosary, Al Bandary Al-Bakheet, Maysoon Alsagob, Ehab Tous, Dilek Colak, Dorota Monies, Lefian Al-Otaibi, Mohammed Al-Owain, Namik Kaya, Abdulaziz Alsemari, Saif Alshahrani, Maha H. Daghestani, Mohamed Tohary
Publikováno v:
Clinical Genetics. 99:724-731
The dysfunction of microtubules (α/β-tubulin polymers) underlies a wide range of nervous system genetic abnormalities. Defects in TBCD, a tubulin-folding cofactor, cause diseases highlighted with early-onset encephalopathy with or without neurodege
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9cf2c39a54f31c47f57d0428b627ed0
https://doi.org/10.1111/cge.13932
https://doi.org/10.1111/cge.13932
Autor:
Faiqa Imtiaz, Nouf S. Al-Numair, Tarek Owaidah, Khushnooda Ramzan, Laila Alquait, Meshal Alshehri
Publikováno v:
Blood Coagulation & Fibrinolysis. 32:352-355
Bernard-Soulier syndrome is a rare autosomal recessive bleeding disorder and has a low incidence. Bernard-Soulier syndrome is caused by the deficiency of glycoprotein GPIb-V-IX complex, a receptor for von Willebrand factor and is characterized by thr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4462fd1ea56bc3b853fe317e418e995
https://doi.org/10.1097/mbc.0000000000001027
https://doi.org/10.1097/mbc.0000000000001027
Autor:
Rawan Almass, Mohammad A. Al-Muhaizea, Shoug AlHarbi, Dilek Colak, Anoud Abdulmalik Albader, Namik Kaya, Laila AlQuait, Maha Al-Rasheed, Abdullah Alhumaidan, Afnan Alrasheed, Albandary Al-Bakheet
Publikováno v:
Neuromuscular Disorders. 30:611-615
Congenital myasthenic syndrome comprises several genetic disorders that impair neuromuscular junction transmission. Causative mutations occur in at least 30 genes, approximately 6-8% of which are presynaptic. One such gene, VAMP1, encodes vesicle-ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc1b6702dca490ee0d6387343c2050bd
https://doi.org/10.1016/j.nmd.2020.04.007
https://doi.org/10.1016/j.nmd.2020.04.007
Autor:
Amber Begtrup, Aljouhra AlHargan, Stefan T. Arold, Anoud Abdulmalik Albader, Peter I. Karachunski, Rawan Almass, Laila AlQuait, Tahsin Stefan Barakat, Ibrahim H. Kaya, Aida M. Bertoli-Avella, Eva Medico Salsench, Dilek Colak, Namik Kaya, Monica Segura Castell, Jude Howaidi, Aziza Chedrawi, Jacie Ihinger, Peter Bauer, Jumanah Al-Sufayan, Mohammed A. AlMuhaizea
Publikováno v:
Acta Neuropathologica, 139(4), 791-794. Springer-Verlag
We are grateful to the patient families for their participation. This research was conducted through intramural funds (RAC# 2120022, 2180004, 2110006) provided by King Faisal Specialist Hospital and Research Centre (KFSHRC). We would like to thank Na
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aab78f55b8d441a122f8ae59dbeddd67
https://doi.org/10.1007/s00401-020-02128-8
https://doi.org/10.1007/s00401-020-02128-8
Autor:
Robert W. Taylor, Alya Qari, Rozeena Huma, Moeenaldeen Al-Sayed, Dilek Colak, Laila AlQuait, Rawan Almass, Maysoon Alsagob, Maha Abdulrahim, Lujane Y. Al-Ahaidib, Basma Alahideb, Eman Alobeid, Tarfa Alshidi, Albandary Al-Bakheet, N. Kaya, Mazhor Al-Dosary, Zainab AlMasseri, Shahad Baselm
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)
JIMD Reports
JIMD Reports
SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy, of which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d06756e7875e92bcfed9c4fb37201d
https://doi.org/10.1002/jmd2.12218
https://doi.org/10.1002/jmd2.12218
Autor:
Laila AlQuait, Abdullah M. Aldalaan, Mohammed Al-Owain, Khushnooda Ramzan, Nadeen Alharbi, Hamdeia Zaytoun, Ihab Weheba, Abeer Abdelsayed, Fatima Alzubi, Sarfraz Saleemi, Faiqa Imtiaz
Publikováno v:
Pulmonary Circulation
Pulmonary Circulation, Vol 11 (2021)
Pulmonary Circulation, Vol 11 (2021)
Pulmonary arterial hypertension (PAH), whether idiopathic PAH (IPAH), heritable PAH, or associated with other conditions, is a rare and potentially lethal disease characterized by progressive vascular changes. To date, there is limited data on the ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6be3bb259d02f3bae60aa0b0ddfab8bf
https://pubmed.ncbi.nlm.nih.gov/34377436
https://pubmed.ncbi.nlm.nih.gov/34377436