檢索結果 - Stumpel, Constance

Triple X syndrome: a review of the literature 由 Otter, Maarten, Schrander-Stumpel, Constance TRM, Curfs, Leopold MG

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Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment 由 Schott, Dina A., Stumpel, Constance T. R. M., Klaassens, Merel

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The psychiatric phenotype in triple X syndrome: New hypotheses illustrated in two cases 由 Otter, Maarten, Schrander-Stumpel, Constance T. R. M., Didden, Robert, Curfs, Leopold M. G.

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A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report 由 Otter, Maarten, Wevers, Marijke, Pisters, Marline, Pfundt, Rolph, Vos, Yvonne, Nievelstein, Rutger Jan, Stumpel, Constance

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Orthopaedic Aspects of SAMS Syndrome 由 Schrander, Dirk E., Staal, Heleen M., Johnson, Colin A., Calder, Alistair, Ghali, Neeti, Chudley, Albert E., Stumpel, Constance T.R.M.

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Social functioning and emotion recognition in adults with triple X syndrome 由 Otter, Maarten, Crins, Peter M. L., Campforts, Bea C. M., Stumpel, Constance T. R. M., van Amelsvoort, Thérèse A. M. J., Vingerhoets, Claudia

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Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging study 由 Serrarens, Chaira, Otter, Maarten, Campforts, Bea C. M., Stumpel, Constance T. R. M., Jansma, Henk, van Amelsvoort, Thérèse A. M. J., Vingerhoets, Claudia

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Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly 由 Sinnema, Margje, van Roozendaal, Kees E P, Maaskant, Marian A, Smeets, Hubert J M, Engelen, John J M, Jonker-Houben, Nieke, Schrander-Stumpel, Constance T R M, Curfs, Leopold M G

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The C20orf133 gene is disrupted in a patient with Kabuki syndrome 由 Maas, Nicole M C, Van de Putte, Tom, Melotte, Cindy, Francis, Annick, Schrander‐Stumpel, Constance T R M, Sanlaville, Damien, Genevieve, David, Lyonnet, Stanislas, Dimitrov, Boyan, Devriendt, Koenraad, Fryns, Jean‐Pierre, Vermeesch, Joris R

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The C20orf133 gene is disrupted in a patient with Kabuki syndrome 由 Maas, Nicole M C, Van de Putte, Tom, Melotte, Cindy, Francis, Annick, Schrander-Stumpel, Constance T R M, Sanlaville, Damien, Genevieve, David, Lyonnet, Stanislas, Dimitrov, Boyan, Devriendt, Koenraad, Fryns, Jean-Pierre, Vermeesch, Joris R

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The adult phenotype of Schaaf-Yang syndrome 由 Marbach, Felix, Elgizouli, Magdeldin, Rech, Megan, Beygo, Jasmin, Erger, Florian, Velmans, Clara, Stumpel, Constance T. R. M., Stegmann, Alexander P. A., Beck-Wödl, Stefanie, Gillessen-Kaesbach, Gabriele, Horsthemke, Bernhard, Schaaf, Christian P., Kuechler, Alma

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SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid 由 Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert E., Dobbie, Angus, Stumpel, Constance T.R.M., Johnson, Colin A.

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Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD 由 Renard, Marjolijn, Callewaert, Bert, Baetens, Machteld, Campens, Laurence, MacDermot, Kay, Fryns, Jean-Pierre, Bonduelle, Maryse, Dietz, Hal, Gaspar, Isabel Mendes, Cavaco, Diogo, Stattin, Eva-Lena, Schrander-Stumpel, Constance, Coucke, Paul, Loeys, Bart, De Paepe, Anne, De Backer, Julie

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Phenotypic and molecular insights into CASK-related disorders in males 由 Moog, Ute, Bierhals, Tatjana, Brand, Kristina, Bautsch, Jan, Biskup, Saskia, Brune, Thomas, Denecke, Jonas, de Die-Smulders, Christine E, Evers, Christina, Hempel, Maja, Henneke, Marco, Yntema, Helger, Menten, Björn, Pietz, Joachim, Pfundt, Rolph, Schmidtke, Jörg, Steinemann, Doris, Stumpel, Constance T, Van Maldergem, Lionel, Kutsche, Kerstin

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The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene 由 Stevens, Servi J. C., Stumpel, Constance T. R. M., Diderich, Karin E. M., van Slegtenhorst, Marjon A., Abbott, Mary‐Alice, Manning, Courtney, Balciuniene, Jorune, Pyle, Louise C., Leonard, Jacqueline, Murrell, Jill R., van de Putte, Romy, van Rooij, Iris A. L. M., Hoischen, Alexander, Lasko, Paul, Brunner, Han G.

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DTYMK is essential for genome integrity and neuronal survival 由 Vanoevelen, Jo M., Bierau, Jörgen, Grashorn, Janine C., Lambrichs, Ellen, Kamsteeg, Erik-Jan, Bok, Levinus A., Wevers, Ron A., van der Knaap, Marjo S., Bugiani, Marianna, Frisk, Junmei Hu, Colnaghi, Rita, O’Driscoll, Mark, Hellebrekers, Debby M. E. I., Rodenburg, Richard, Ferreira, Carlos R., Brunner, Han G., van den Wijngaard, Arthur, Abdel-Salam, Ghada M. H., Wang, Liya, Stumpel, Constance T. R. M.

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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila 由 Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan, Mikati, Mohamad A., Nesbitt, Addie, Nicolai, Joost, Phillips, Meredith, Poduri, Annapurna, Ortiz-Gonzalez, Xilma R., Powis, Zöe, Santani, Avni, Smith, Lacey, Stegmann, Alexander P.A., Stumpel, Constance, Vreeburg, Maaike, Fliedner, Anna, Gregor, Anne, Sticht, Heinrich, Zweier, Christiane

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Primrose syndrome: Characterization of the phenotype in 42 patients 由 Melis, Daniela, Carvalho, Daniel, Barbaro‐Dieber, Tina, Espay, Alberto J., Gambello, Michael J., Gener, Blanca, Gerkes, Erica, Hitzert, Marrit M., Hove, Hanne B., Jansen, Sandra, Jira, Petr E., Lachlan, Katherine, Menke, Leonie A., Narayanan, Vinodh, Ortiz, Damara, Overwater, Eline, Posmyk, Renata, Ramsey, Keri, Rossi, Alessandro, Sandoval, Renata Lazari, Stumpel, Constance, Stuurman, Kyra E., Cordeddu, Viviana, Turnpenny, Peter, Strisciuglio, Pietro, Tartaglia, Marco, Unger, Sheela, Waters, Todd, Turnbull, Clare, Hennekam, Raoul C.

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REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31 由 Beetz, Christian, Schüle, Rebecca, Deconinck, Tine, Tran-Viet, Khanh-Nhat, Zhu, Hui, Kremer, Berry P. H., Frints, Suzanna G. M., van Zelst-Stams, Wendy A. G., Byrne, Paula, Otto, Susanne, Nygren, Anders O. H., Baets, Jonathan, Smets, Katrien, Ceulemans, Berten, Dan, Bernard, Nagan, Narasimhan, Kassubek, Jan, Klimpe, Sven, Klopstock, Thomas, Stolze, Henning, Smeets, Hubert J. M., Schrander-Stumpel, Constance T. R. M., Hutchinson, Michael, van de Warrenburg, Bart P., Braastad, Corey, Deufel, Thomas, Pericak-Vance, Margaret, Schöls, Ludger, de Jonghe, Peter, Züchner, Stephan

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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies 由 Platzer, Konrad, Sticht, Heinrich, Edwards, Stacey L., Allen, William, Angione, Kaitlin M., Bonati, Maria T., Brasington, Campbell, Cho, Megan T., Demmer, Laurie A., Falik-Zaccai, Tzipora, Gamble, Candace N., Hellenbroich, Yorck, Iascone, Maria, Kok, Fernando, Mahida, Sonal, Mandel, Hanna, Marquardt, Thorsten, McWalter, Kirsty, Panis, Bianca, Pepler, Alexander, Pinz, Hailey, Ramos, Luiza, Shinde, Deepali N., Smith-Hicks, Constance, Stegmann, Alexander P.A., Stöbe, Petra, Stumpel, Constance T.R.M., Wilson, Carolyn, Lemke, Johannes R., Di Donato, Nataliya, Miller, Kenneth G., Jamra, Rami

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