Search Results - "Alotaibi, Lena"

Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy by Alotaibi, Lena, Alqasmi, Amal

“…Hypomyelinating leukodystrophies are one of the white matter disorders caused by a lack of myelin deposition in the central nervous system (CNS). Here, we…”
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Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance by Alduaiji, Reema, Alqahtani, Laila, Alqadiri, Reema, Alotaibi, Lena, abolfotouh, Mostafa, Alfadhel, Majid

“…Background: Preimplantation genetic testing (PGT) is used to identify a pathogenic variant in embryos created through in vitro fertilization. A "variant of…”
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Outcomes and prognostic factors of advanced biliary tract cancers in Saudi Arabia by Alshammari, Kanan, Alduaiji, Reema, Alotaibi, Lena, Alqadiri, Reema, Alqahtani, Laila, Alotaibi, Faizah, Al-Fayea, Turki, Sabatin, Fouad, Alolayan, Ashwaq, Alkaiyat, Mohammad, Shehata, Husam, Al Qahtani, Joud, Algarni, Mohammed Ahmed

“…460 Background: Biliary tract cancers which include gallbladder adenocarcinoma, intrahepatic and extrahepatic cholangiocarcinoma are rare, and carry a poor…”
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Hearing loss in patients with dementia in Saudi Arabia by Alqahtani, Laila, Alotaibi, Lena, Alkhunein, Jullanar, Alduaiji, Reema, Alqadiri, Reema, Alibrahim, Fawaz, binSalih, Salih, Balubaid, Hashim

“…To determine the prevalence of hearing loss in patients with dementia, examine the use of hearing aids in those with hearing loss, and ascertain if the cause…”
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Clinical and molecular characterization of patients with YWHAG‐related epilepsy by Cetica, Valentina, Pisano, Tiziana, Lesca, Gaetan, Marafi, Dana, Licchetta, Laura, Riccardi, Florence, Mei, Davide, Chung, Hon‐yin B., Bayat, Allan, Balasubramanian, Meena, Lowenstein, Daniel H., Endzinienė, Milda, Alotaibi, Maha, Villeneuve, Nathalie, Jacobs, Julia, Isidor, Bertrand, Solazzi, Roberta, Hollander, Nicolette S., Marjanovic, Dragan, Rougeot‐Jung, Christelle, Jung, Julien, Lesieur‐Sebellin, Marion, Accogli, Andrea, Salpietro, Vincenzo, Saadi, Nebal W., Panagiotakaki, Eleni, Foiadelli, Thomas, Redon, Sylvia, Tsai, Meng‐Han, Bisulli, Francesca, Hammer, Trine B., Lupski, James R., Parrini, Elena, Guerrini, Renzo, Alotaibi, Lena, Ambrosetti, Irene, Bellanger, Séverine A., Castellotti, Barbara, Cavallin, Mara, Chan, Joshua C. K., Chatron, Nicolas, Chavany, Julie, Cogne, Benjamin, Fung, Jasmine L. F., Gjerulfsen, Cathrine E., Granata, Tiziana, Guimier, Anne, Herman, Isabella, Ho, Chen‐Jui, Mandorlini, Claudia, Milh, Mathieu, Minardi, Raffaella, Montanari, Francesca, Rosenfeld, Jill A., Moller, Rikke S., Operto, Francesca F., Posey, Jennifer E., Ruivenkamp, Claudia A. L., Sacaze, Elise, Santi, Viola, Savasta, Salvatore, Touraine, Renaud, Tumiene, Birute, Uguen, Kevin, Villard, Laurent

“…Objective YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with…”
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Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy by Alotaibi, Lena, Alqasmi, Amal

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