A CASE STUDY ON THERMAL ANALYSIS OF THE DISC BRAKE USED FOR HEAVY-DUTY CARS von Riyami, Said S. Al, Chala, Girma T., Bernard, Alex, Maawali, Khalid Al

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Modern Treatments and Stem Cell Therapies for Perianal Crohn’s Fistulas von Al-Maawali, Alghalya Khalid Sulaiman, Phang, P. Terry, Nguyen, Phuong

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Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits von Al‐Nabhani, Maryam, Al‐Rashdi, Samiya, Al‐Murshedi, Fathiya, Al‐Kindi, Adila, Al‐Thihli, Khalid, Al‐Saegh, Abeer, Al‐Futaisi, Amna, Al‐Mamari, Watfa, Zadjali, Fahad, Al‐Maawali, Almundher

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Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23 von Al‐Futaisi, Amna, Ahmad, Faraz, Al‐Kasbi, Ghalia, Al‐Thihli, Khalid, Koul, Roshan, Al‐Maawali, Almundher

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Phenotypic spectrum of ALPK3‐related cardiomyopathy von Al Senaidi, Khalfan, Joshi, Niranjan, Al‐Nabhani, Maryam, Al‐Kasbi, Ghalia, Al Farqani, Abdullah, Al‐Thihli, Khalid, Al‐Maawali, Almundher

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Further phenotypic delineation of Alazami syndrome von Al‐Hinai, Abdulhamid, Al‐Hashmi, Samiya, Ganesh, Anuradha, Al‐Hashmi, Nadia, Al‐Saegh, Abeer, Al‐Mamari, Watfa, Al‐Murshedi, Fathiya, Al‐Thihli, Khalid, Al‐Kindi, Adila, Al‐Maawali, Almundher

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Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain von Averdunk, Luisa, Al‐Thihli, Khalid, Surowy, Harald, Lüdecke, Hermann‐Josef, Drechsler, Matthias, Yigit, Gökhan, Smorag, Lukasz, Al Hallak, Bassam, Li, Yun, Altmüller, Janine, Guthoff, Tanja, Wallot, Michael, Nürnberg, Peter, Wollnik, Bernd, Jamra, Rami Abou, Al‐Maawali, Almundher, Wieczorek, Dagmar

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Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset von Al‐Thihli, Khalid, Afting, Cassian, Al‐Hashmi, Nadia, Mohammed, Mohammed, Sliwinski, Svenja, Al Shibli, Naema, Al‐Said, Khoula, Al‐Kasbi, Ghalia, Al‐Kharusi, Khalsa, Merle, Uta, Füllekrug, Joachim, Al‐Maawali, Almundher

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The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families von Al-Kasbi, Ghalia, Al-Murshedi, Fathiya, Al-Kindi, Adila, Al-Hashimi, Nadia, Al-Thihli, Khalid, Al-Saegh, Abeer, Al-Futaisi, Amna, Al-Mamari, Watfa, Al-Asmi, Abdullah, Bruwer, Zandre, Al-Kharusi, Khalsa, Al-Rashdi, Samiya, Zadjali, Fahad, Al-Yahyaee, Said, Al-Maawali, Almundher

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The Genetic Spectrum of Familial Hypertriglyceridemia in Oman von Al-Waili, Khalid, Al-Rasadi, Khalid, Al-Bulushi, Muna, Habais, Mohammed, Al-Mujaini, Abdullah, Al-Yaarubi, Saif, Rimbert, Antoine, Zadjali, Razan, Khaniabadi, Pegah Moradi, Al-Barwani, Hamida, Hasary, Sana, Al-Dahmani, Zayana M, Al-Badi, Hala, Al-Maawali, Almundher, Zadjali, Fahad

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Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans von Seidahmed, Mohammed Zain, Al-Kindi, Adila, Alsaif, Hessa S., Miqdad, Abeer, Alabbad, Nasser, Alfifi, Abdallah, Abdelbasit, Omer Bashir, Alhussein, Khalid, Alsamadi, Abdulmohsen, Ibrahim, Niema, Al-Futaisi, Amna, Al-Maawali, Almundher, Alkuraya, Fowzan S.

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Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature von Al-Amrani, Fatema, Al-Maawali, Almundher, Al-Thihli, Khalid, Al-Ajmi, Eiman, Ganesh, Anuradha, Al Futaisi, Amna

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Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans von Alzahrani, Fatema, Kuwahara, Hiroyuki, Long, Yongkang, Al-Owain, Mohammed, Tohary, Mohamed, AlSayed, Moeenaldeen, Mahnashi, Mohammed, Fathi, Lana, Alnemer, Maha, Al-Hamed, Mohamed H., Lemire, Gabrielle, Boycott, Kym M., Hashem, Mais, Han, Wenkai, Al-Maawali, Almundher, Al Mahrizi, Feisal, Al-Thihli, Khalid, Gao, Xin, Alkuraya, Fowzan S.

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Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study von Al-Tamemi, Salem, Al-Zadjali, Shoaib, Bruwer, Zandre, Naseem, Shafiq-Ur-Rehman, Al-Siyabi, Nabila, ALRawahi, Mohammed, Alkharusi, Khalsa, Al-Thihli, Khalid, Al-Murshedi, Fathiya, AlSayegh, Abeer, Al-Maawali, Almundher, Dennison, David

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Clinical and Molecular Characteristics of Children with Beckwith-Wiedemann Syndrome and Isolated Hemi Hyperplasia at Sultan Qaboos University Hospital with Their Surveillance Outco... von Al-Hinai, Ayat Sulayiam, Al-Maawali, Almundher, Al-Kindi, Adila, Al-Saegh, Abeer, Al-Thihli, Khalid, Otaify, Ghada A.

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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation von Coolen, Marion, Altin, Nami, Rajamani, Karthyayani, Pereira, Eva, Siquier-Pernet, Karine, Puig Lombardi, Emilia, Moreno, Nadjeda, Barcia, Giulia, Yvert, Marianne, Laquerrière, Annie, Pouliet, Aurore, Nitschké, Patrick, Boddaert, Nathalie, Rausell, Antonio, Razavi, Féréchté, Afenjar, Alexandra, Billette de Villemeur, Thierry, Al-Maawali, Almundher, Al-Thihli, Khalid, Baptista, Julia, Beleza-Meireles, Ana, Garel, Catherine, Legendre, Marine, Gelot, Antoinette, Burglen, Lydie, Moutton, Sébastien, Cantagrel, Vincent

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Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period von Bruwer, Zandré, Al Ubaidani, Salwa, Al Kharusi, Khalsa, Al Murshedi, Fathiya, Al-Maawali, Almundher, Al Sayegh, Abeer, Al Kindy, Adila, Al Riyami, Nihal, Al Dughaishi, Tamima, Al Salmani, Mouza, Al Hashmi, Nadia, Al Shehhi, Maryam, Al Fahdi, Badriya, Al Amri, Sumaya, Al-Thihli, Khalid

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MLIP-Associated Myopathy: A Case Report and Review of the Literature von Al Amrani, Fatema, Al-Thihli, Khalid, Narayanappa, Gayathri, Al-Maawali, Almundher

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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation von Coolen, Marion, Altin, Nami, Rajamani, Karthyayani, Pereira, Eva, Siquier-Pernet, Karine, Puig Lombardi, Emilia, Moreno, Nadjeda, Barcia, Giulia, Yvert, Marianne, Laquerrière, Annie, Pouliet, Aurore, Nitschké, Patrick, Boddaert, Nathalie, Rausell, Antonio, Razavi, Féréchté, Afenjar, Alexandra, Billette de Villemeur, Thierry, Al-Maawali, Almundher, Al-Thihli, Khalid, Baptista, Julia, Beleza-Meireles, Ana, Garel, Catherine, Legendre, Marine, Gelot, Antoinette, Burglen, Lydie, Moutton, Sébastien, Cantagrel, Vincent

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Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder von Accogli, Andrea, Lin, Sheng-Jia, Severino, Mariasavina, Kim, Sung-Hoon, Huang, Kevin, Rocca, Clarissa, Landsverk, Megan, Zaki, Maha, Al-Maawali, Almundher, srinivasan, Varunvenkat M., Al-Thihli, Khalid, Schaefer, G. Bradly, Davis, Monica, Tonduti, Davide, Doneda, Chiara, Marten, Lara M., Mühlhausen, Chris, Gomez, Maria, Lamantea, Eleonora, Mena, Rafael, Nizon, Mathilde, Procaccio, Vincent, Begtrup, Amber, Telegrafi, Aida, Cui, Hong, Schulz, Heidi L., Mohr, Julia, Biskup, Saskia, Loos, Mariana Amina, Aráoz, Hilda Verónica, Salpietro, Vincenzo, Keppen, Laura Davis, Chitre, Manali, Petree, Cassidy, Raymond, Lucy, Vogt, Julie, Swayer, Lindsey B., Basinger, Alice A., Pedersen, Signe Vandal, Pearson, Toni S., Grange, Dorothy K., Lingapp, Lokesh, McDunnah, Paige, Horvath, Rita, Cogne, Benjamin, Isidor, Bertrand, Hahn, Andreas, Gripp, Karen, Jafarnejad, Seyed Mehdi, Ostergaard, Elsebet, Prada, Carlos E., Ghezzi, Daniele, Gowda, Vykuntaraju K., Taylor, Robert W., Sonenberg, Nahum, Houlden, Henry, Sissler, Marie, Varshney, Gaurav K., Maroofian, Reza

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