檢索結果 - Leigh Demain

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  1. 1
    Genetics of mitochondrial dysfunction and infertility

    Genetics of mitochondrial dysfunction and infertility 由 Leigh Demain, Gerard S. Conway, William G. Newman

    出版 2016
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  2. 2
    Mutations of <i><scp>SGO2</scp></i> and <i><scp>CLDN14</scp></i> collectively cause coincidental Perrault syndrome

    Mutations of <i><scp>SGO2</scp></i> and <i><scp>CLDN14</scp></i> collectively cause coincidental Perrault syndrome 由 Rabia Faridi, Atteeq U. Rehman, Robert J. Morell, Penelope L. Friedman, Leigh Demain, S.T. ZAHRA, Asma A. Khan, Dalia Tohlob, Muhammad Zaman Khan Assir, Glenda M. Beaman, S. N. Khan, William G. Newman, Saima Riazuddin, Thomas B. Friedman

    出版 2016
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  3. 3
    Expanding the genotypic spectrum of Perrault syndrome

    Expanding the genotypic spectrum of Perrault syndrome 由 Leigh Demain, Jill Urquhart, James O’Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Emma M. Jenkinson, Charles Marques Lourenço, Arvid Heiberg, Simon H. S. Pearce, Stavit A. Shalev, Wyatt W. Yue, Sabrina MacKinnon, Kevin J. Munro, Ruth Newbury‐Ecob, Kerstin Becker, M.J. Kim, Raymond T. O. Keefe, William G. Newman

    出版 2016
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  4. 4
    Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

    Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations 由 Irit Hochberg, Leigh Demain, Julie Richer, Kyle Thompson, Jill Urquhart, Alessandro Rea, Waheeda Pagarkar, Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Aurora Pujol, Pilar Quijada‐Fraile, Albert Amberger, Andrea Deutschmann, Sandra Demetz, Meredith Gillespie, Inna A. Belyantseva, Hugh J. McMillan, Melanie Barzik, Glenda M. Beaman, Reeya Motha, Kah Ying Ng, James O’Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Isabella Rachel Lawrence, Emma M. Jenkinson, Jessica L. Zambonin, Zeev Blumenfeld, Sergey Yalonetsky, Stephanie Oerum, Walter Rossmanith, Wyatt W. Yue, Johannes Zschocke, Kevin J. Munro, Brendan J. Battersby, Thomas B. Friedman, Robert W. Taylor, Raymond T. O’Keefe, William G. Newman

    出版 2021
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  5. 5
    Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

    Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency 由 Huw B. Thomas, Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea, Thashi Bharadwaj, Thomas B. Smith, Monika Oláhová, Kyle Thompson, Langping He, Namanpreet Kaur, Anju Shukla, Musaad Abukhalid, Muhammad Ansar, Sakina Rehman, Saima Riazuddin, Firdous Abdulwahab, Janine Smith, Zornitza Stark, Hanifenur Mancılar, Sait Tümer, Fatma Nisa Esen, Eyyüp Üçtepe, Vehap Topçu, Ahmet Yeşilyurt, Erum Afzal, Mehri Salari, Christopher J. Carroll, Giovanni Zifarelli, Peter Bauer, Deniz Kör, Fatma Derya Bulut, Henry Houlden, Reza Maroofian, Samantha Carrera, Wyatt W. Yue, Kevin J. Munro, Fowzan S. Alkuraya, Peter Jamieson, Zubair M. Ahmed, Suzanne M. Leal, Robert W. Taylor, Ilka Wittig, Raymond T. O’Keefe, William G. Newman

    出版 2025
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  6. 6
    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement 由 Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy L. Schneider, Emily Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Galey, Joy Goffena, Sophia B Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman‐Sagie, Kristen Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Geneviève, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao‐Tuan Chao, Geoffrey Neale, Gemma L. Carvill, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadiković, Heather C. Mefford

    出版 2024
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