Search Results - "Al Beshri, Ali"

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy by Campbell, Teresa, Lou, Xiaoting, Slone, Jesse, Brown, Jenice, Bromwell, Meghan, Liu, Jie, Bai, Renkui, Haude, Katrina, Balog, Amanda, Cui, Hong, Zou, Weiwei, Yang, Li, Al‐Beshri, Ali, Huang, Taosheng

“…The MT‐TL1 gene codes for the mitochondrial leucine transfer RNA (tRNALeu(UUR)) necessary for mitochondrial translation. Pathogenic variants in the MT‐TL1 gene…”
Get full text

Retinal detachment after cyclophotocoagulation in a child with knobloch syndrome by Al-Beshri, Ali, Kozak, Igor, Craven, Earl

“…Knobloch syndrome (KS) is typically characterized by high myopia, vitreoretinal degeneration, retinal detachment, and macular abnormalities. We report a case…”
Get full text

Overhanging-Dissecting Blebs: Immunohistochemical Characterization by Al-Beshri, Ali S, Edward, Deepak P, Craven, Earl Randy

“…PURPOSE:To determine if glaucoma filtering blebs migrate over or under the cornea epithelium using histopathological and immunohistochemical (IHC) techniques…”
Get full text

Short and long-term outcomes of angle supported phakic intraocular lens implantation in high myopic eyes by Al-Qahtani, Saeed, Al-Afraj, Khalid, Al-Jindan, Mohanna, Al-Beshri, Ali S, Khandekar, Rajiv

“…This cohort study included 36 eyes of 21 patients with high myopia treated with angle supported phakic intraocular lens (pIOL). Endothelial cell density (ECD)…”
Get full text

Indications and techniques employed for keratoplasty in the Eastern province of Saudi Arabia: 6 years of experience by Al-Arfai, Khalid M, Yassin, Sanaa A, Al-Beshri, Ali S, Al-Jindan, Mohanna Y, Al-Tamimi, Elham R

“…Keratoplasty services in Saudi Arabia have progressed steadily in the past few decades. We sought to identify the leading indications and types of keratoplasty…”
Get full text

Haptic Amputation Under Endoscopic Guidance in Uveitis-Glaucoma-Hyphema Syndrome: A Case Report by Alshehri, Merai, Al Beshri, Ali, Bamefleh, Dania

“…Uveitis-glaucoma-hyphema (UGH) syndrome is a rare ophthalmic postoperative complication in which the intraocular implants or devices like intraocular lenses…”
Get full text

An Adoptive Threshold-Based Multi-Level Deep Convolutional Neural Network for Glaucoma Eye Disease Detection and Classification by Aamir, Muhammad, Irfan, Muhammad, Ali, Tariq, Ali, Ghulam, Shaf, Ahmad, S, Alqahtani Saeed, Al-Beshri, Ali, Alasbali, Tariq, Mahnashi, Mater H

“…Glaucoma, an eye disease, occurs due to Retinal damages and it is an ordinary cause of blindness. Most of the available examining procedures are too long and…”
Get full text

P736: Constitutional mosaic pericentromeric trisomy 8 in a female patient with aplastic anemia by Gao, Min, Chen, Yunjia, Lertwilaiwittaya, Pongtawat, Hurst, Anna, Al-Beshri, Ali, Carroll, Andrew, Mikhail, Fady

Get full text

P440: DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest an association with congenital anomalies and dysmorphism by Chen, Yunjia, Karaca, Ender, Robin, Nathaniel, Goodloe, Dana, Al-Beshri, Ali, Dean, S. Joy, Hurst, Anna, Carroll, Andrew, Mikhail, Fady

Get full text

Fragile Bones Secondary to SMURF1 Gene Duplication by Al-Rawi, Rawan, Al-Beshri, Ali, Mikhail, Fady M., McCormick, Kenneth

“…Studies on mice have shown that the Smad Ubiquitin Regulatory Factor-1 ( SMURF1 ) gene negatively regulates osteoblast function and the response to bone…”
Get full text

An inborn error of metabolism presenting with apparently isolated subacute neuropsychiatric symptoms in an adolescent by Engel, Sarah Grace, Said Al-Beshri, Ali, Ananth, Amitha, Rashid, Salman

“…We discuss a previously healthy adolescent male presenting with subacute neuropsychiatric issues, tremors, hyperreflexia, and hypertension. Laboratory studies…”
Get full text

DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism by Chen, Yunjia, Karaca, Ender, Robin, Nathaniel H, Goodloe, Dana, Al-Beshri, Ali, Dean, S Joy, Hurst, Anna C E, Carroll, Andrew J, Mikhail, Fady M

“…Multiple studies suggest an association between DLG2 and neurodevelopmental disorders and indicate the haploinsufficiency of this gene; however, few cases have…”
Get full text

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction by Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle

“…Purpose Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and…”
Get full text

Haptic Amputation Under Endoscopic Guidance in Uveitis-Glaucoma-Hyphema Syndrome: A Case Report by Alshehri, Merai, Al Beshri, Ali, Bamefleh, Dania

Get full text

Legalizing Intersectionality: Class, Race and Female Migrant Workers in Qatar by Al Beshri, Maryam Ali

“…While some research has been conducted on labor conditions in the Gulf, we have yet to ask how gender is systematically regulated by the law. To what extent…”
Get full text

Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome by Al-Beshri, Ali S, Kozak, Igor, Craven, Earl Randy

“…Knobloch syndrome (KS) is typically characterized by high myopia, vitreoretinal degeneration, retinal detachment, and macular abnormalities. We report a case…”
Get full text