A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Authors: Ahmed, Mustafa Y., Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A., Pedro Fernandez-Murray, J., Self, Jay E., Salter, Claire G., Harlalka, Gaurav V., Rawlins, Lettie E., Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Markus R., Al-Salmi, Fatema, Patton, Michael A., Silver, David L., Baple, Emma L., McMaster, Christopher R., Crosby, Andrew H.

Source: Brain. 140(3):547-554

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100081716118.0x000001&indx=1&recIds=ETOCvdc_100081716118.0x000001

Macular cystoid spaces in patients with retinal dystrophy

Authors: Lingao, Michelle D., Ganesh, Anuradha, Karthikeyan, Arcot S., Al Zuhaibi, Sana, Al-Hosni, Amna, Al Khayat, Aisha, Capasso, Jenina, Trumler, Anya A., Stroh, Eliza, Al Shekaili, Hilal, Cater, Jacqueline R., Levin, Alex V.

Source: Ophthalmic genetics. 37(4):377-383

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100104137606.0x000001&indx=1&recIds=ETOCvdc_100104137606.0x000001

Loss of PCLO function underlies pontocerebellar hypoplasia type III

Authors: Ahmed, Mustafa Y., Chioza, Barry A., Rajab, Anna, Schmitz-Abe, Klaus, Al-Khayat, Aisha, Al-Turki, Saeed, Baple, Emma L., Patton, Michael A., Al-Memar, Ali Y., Hurles, Matthew E., Partlow, Jennifer N., Hill, R. Sean, Evrony, Gilad D., Servattalab, Sarah, Markianos, Kyriacos, Walsh, Christopher A., Crosby, Andrew H., Mochida, Ganeshwaran H.

Source: Neurology. 84(17):1745-1750

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100036950329.0x000001&indx=1&recIds=ETOCvdc_100036950329.0x000001

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.

Authors: Tábara, Luis Carlos¹, Al-Salmi, Fatema², Maroofian, Reza³, Al-Futaisi, Amna Mohammed⁴, Al-Murshedi, Fathiya⁴, Kennedy, Joanna^2,5, Day, Jacob O^2,6, Courtin, Thomas⁷, Al-Khayat, Aisha⁸, Galedari, Hamid⁹, Mazaheri, Neda⁹, Protasoni, Margherita¹, Johnson, Mark¹, Leslie, Joseph S², Salter, Claire G², Rawlins, Lettie E^2,10, Fasham, James^2,10, Al-Maawali, Almundher⁴, Voutsina, Nikol², Charles, Perrine⁷

Source: Brain: A Journal of Neurology; Sep2022, Vol. 145 Issue 9, p3095-3107, 13p

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A PCR-RFLP Test for Simultaneous Detection of Two Single-Nucleotide Insertions in the Connexin-26 Gene Promoter

Authors: Simsek, Mehmet, Al-Wardy, Nadia, Al-Khayat, Aisha, Al-Khabory, Mazin

Source: Genetic Testing; September 1, 2002, Vol. 6 Issue: 3 p225-228, 4p

Absence of deafness-associated connexin-26 ( GJB2) gene mutations in the Omani population.

Authors: Simsek, Mehmet, Al-Wardy, Nadia, Al-Khayat, Aisha, Shanmugakonar, Muralitharan, Al-Bulushi, Talal, Al-Khabory, Mazin, Al-Mujeni, Sheikha, Al-Harthi, Samia

Source: Human Mutation; Dec2001, Vol. 18 Issue 6, p545-546, 2p