Synthesizing Multiple Stakeholder Perspectives on Using Virtual Reality to Improve the Periprocedural Experience in Children and Adolescents: Survey Study

por Ahmadpour, Naseem, Weatherall, Andrew David, Menezes, Minal, Yoo, Soojeong, Hong, Hanyang, Wong, Gail
Publicado 2020

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

por Miller, David K., Menezes, Minal J., Simons, Cas, Riley, Lisa G., Cooper, Sandra T., Grimmond, Sean M., Thorburn, David R., Christodoulou, John, Taft, Ryan J.
Publicado 2014

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

por Riley, Lisa G, Menezes, Minal J, Rudinger-Thirion, Joëlle, Duff, Rachael, de Lonlay, Pascale, Rotig, Agnes, Tchan, Michel C, Davis, Mark, Cooper, Sandra T, Christodoulou, John
Publicado 2013

Mutations in the exocyst component EXOC2 cause severe defects in human brain development

por Van Bergen, Nicole J., Ahmed, Syed Mukhtar, Collins, Felicity, Cowley, Mark, Vetro, Annalisa, Dale, Russell C., Hock, Daniella H., de Caestecker, Christian, Menezes, Minal, Massey, Sean, Ho, Gladys, Pisano, Tiziana, Glover, Seana, Gusman, Jovanka, Stroud, David A., Dinger, Marcel, Guerrini, Renzo, Macara, Ian G., Christodoulou, John
Publicado 2020

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

por Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh Sadat, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Erin H, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Suri, Mohnish, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza
Publicado 2023