Resultats de la cerca - D’Hooghe, Marc 

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1 per Brock, Stefanie, Stouffs, Katrien, Scalais, Emmanuel, D’Hooghe, Marc, Keymolen, Kathelijn, Guerrini, Renzo, Dobyns, William B., Di Donato, Nataliya, Jansen, Anna C.

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Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction per Izzi, Benedetta, Francois, Inge, Labarque, Veerle, Thys, Chantal, Wittevrongel, Christine, Devriendt, Koen, Legius, Eric, Van den Bruel, Annick, D'Hooghe, Marc, Lambrechts, Diether, de Zegher, Francis, Van Geet, Chris, Freson, Kathleen

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A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy per Simons, Cas, Dyment, David, Bent, Stephen J, Crawford, Joanna, D’Hooghe, Marc, Kohlschütter, Alfried, Venkateswaran, Sunita, Helman, Guy, Poll-The, Bwee-Tien, Makowski, Christine C, Ito, Yoko, Kernohan, Kristin, Hartley, Taila, Waisfisz, Quinten, Taft, Ryan J, van der Knaap, Marjo S, Wolf, Nicole I

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CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders per Brancati, Francesco , Barrano, Giuseppe , Silhavy, Jennifer L. , Marsh, Sarah E. , Travaglini, Lorena , Bielas, Stephanie L. , Amorini, Maria , Zablocka, Dominika , Kayserili, Hulya , Al-Gazali, Lihadh , Bertini, Enrico , Boltshauser, Eugen , D’Hooghe, Marc , Fazzi, Elisa , Fenerci, Elif Y. , Hennekam, Raoul C. M. , Kiss, Andrea , Lees, Melissa M. , Marco, Elysa , Phadke, Shubha R. , Rigoli, Luciana , Romano, Stephane , Salpietro, Carmelo D. , Sherr, Elliott H. , Signorini, Sabrina , Stromme, Petter , Stuart, Bernard , Sztriha, Laszlo , Viskochil, David H. , Yuksel, Adnan , Dallapiccola, Bruno , Valente, Enza Maria , Gleeson, Joseph G. 

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Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 per Coarelli, Giulia, Schule, Rebecca, van de Warrenburg, Bart P.C., De Jonghe, Peter, Ewenczyk, Claire, Martinuzzi, Andrea, Synofzik, Matthis, Hamer, Elisa G., Baets, Jonathan, Anheim, Mathieu, Schöls, Ludger, Deconinck, Tine, Masrori, Pegah, Fontaine, Bertrand, Klockgether, Thomas, D'Angelo, Maria Grazia, Monin, Marie-Lorraine, De Bleecker, Jan, Migeotte, Isabelle, Charles, Perrine, Bassi, Maria Teresa, Klopstock, Thomas, Mochel, Fanny, Ollagnon-Roman, Elisabeth, D'Hooghe, Marc, Kamm, Christoph, Kurzwelly, Delia, Papin, Melanie, Davoine, Claire-Sophie, Banneau, Guillaume, Tezenas du Montcel, Sophie, Seilhean, Danielle, Brice, Alexis, Duyckaerts, Charles, Stevanin, Giovanni, Durr, Alexandra

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The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies per Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.

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