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Journal Article
Journal Article
by McHugh, David M. S and Cameron, Cynthia A and Abdenur, Jose E and Abdulrahman, Mahera and Adair, Ona and Al Nuaimi, Shahira Ahmed and Ahlman, Henrik and Allen, Jennifer J and Antonozzi, Italo and Archer, Shaina and Au, Sylvia and Auray-Blais, Christiane and Baker, Mei and Bamforth, Fiona and Beckmann, Kinga and Pino, Gessi Bentz and Berberich, Stanton L and Binard, Robert and Boemer, Francois and Bonham, Jim and Breen, Nancy N and Bryant, Sana C and Caggana, Michele and Caldwell, S. Graham and Camilot, Marta and Campbell, Carlene and Carducci, Claudia and Cariappa, Rohit and Carlisle, Clover and Caruso, Ubaldo and Cassanello, Michela and Miren Castilla, Ane and Castineiras Ramos, Daisy E and Chakraborty, Pranesh and Chanasekar, Ram and Ramos, Alfredo Chardon and Cheillan, David and Chien, Yin-Hsiu and Childs, Thomas A and Chrastina, Petr and Sica, Yuri Cleverthon and Cocho de Juan, Jose Angel and Elena Colane, Maria and Cornejo Espinoza, Veronica and Corso, Gaetano and Currier, Robert and Cyr, Denis and Czuczy, Noemi and D'Apolito, Oceania and Davis, Tim and de Sain-Van der Velden, Monique G and Delgado Pecellin, Carmen and Di Gangi, Iole Maria and Di Stefano, Cristina Maria and Dotsikas, Yannis and Downing, Melanie and Downs, Stephen M and Dy, Bonifacio and Dymerski, Mark and Rueda, Inmaculada and Elvers, Bert and Eaton, Roger and Eckerd, Barbara M and El Mougy, Fatma and Eroh, Sarah and Espada, Mercedes and Evans, Catherine and Fawbush, Sandy and Fijolek, Kristel F and Fisher, Lawrence and Franzson, Leifur and Frazier, Dianne M and Garcia, Luciana R. C and Garcia-Valdecasas Bermejo, Maria Sierra and Gavrilov, Dimitar and Gerace, Rosemarie and Giordano, Giuseppe and Irazabal, Yolanda Gonzalez and Greed, Lawrence C and Grier, Robert and Grycki, Elyse and Gu, Xuefan and Gulamali-Majid, Fizza and Hagar, Arthur F and Han, Lianshu and Hannon, W. Harry and Haslip, Christa and Hassan, Fayza Abdelhamid and He, Miao and Hietala, Amy and Himstedt, Leslie and Hoffman, Gary L and Hoffman, William and Hoggatt, Philis and Hopkins, Patrick V and Hougaard, David M and Hughes, Kerie and Hunt, Patricia R and Hwu, Wuh-Liang and Hynes, June and ...
Genetics in Medicine, ISSN 1098-3600, 03/2011, Volume 13, Issue 3, pp. 230 - 254
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 867 - 876
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 764 - 765
A correction has been published to this Article. The PDF and HTML have been updated accordingly. 
Journal Article
Human Mutation, ISSN 1059-7794, 07/2016, Volume 37, Issue 7, pp. 653 - 660
Journal Article
Frontiers in neurology, ISSN 1664-2295, 2016, Volume 7, pp. 203 - 203
In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical... 
Brain-MRI | Perrault syndrome type 3 | CLPP | Perrault syndrome | Genetic diagnosis | EXOME | VARIANTS | brain-MRI | PHENOTYPE | genetic diagnosis | NEUROSCIENCES | CLINICAL NEUROLOGY | PATIENT | MUTATIONS | SPECTRUM | brain MRI
Journal Article
Human Mutation, ISSN 1059-7794, 05/2009, Volume 30, Issue 5, pp. 741 - 748
Journal Article