نتائج البحث - Stumpel, Constance

Triple X syndrome: a review of the literature حسب 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 حسب 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 حسب 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 حسب Otter, Maarten, Wevers, Marijke, Pisters, Marline, Pfundt, Rolph, Vos, Yvonne, Nievelstein, Rutger Jan, Stumpel, Constance

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Orthopaedic Aspects of SAMS Syndrome حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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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