Search Results - "Pfund, Rolph"

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome by Van der Aa, Nathalie, Rooms, Liesbeth, Vandeweyer, Geert, van den Ende, Jenneke, Reyniers, Edwin, Fichera, Marco, Romano, Corrado, Delle Chiaie, Barbara, Mortier, Geert, Menten, Björn, Destrée, Anne, Maystadt, Isabelle, Männik, Katrin, Kurg, Ants, Reimand, Tiia, McMullan, Dom, Oley, Christine, Brueton, Louise, Bongers, Ernie M.H.F, van Bon, Bregje W.M, Pfund, Rolph, Jacquemont, Sebastien, Ferrarini, Alessandra, Martinet, Danielle, Schrander-Stumpel, Connie, Stegmann, Alexander P.A, Frints, Suzanna G.M, de Vries, Bert B.A, Ceulemans, Berten, Kooy, R. Frank

“…Abstract Interstitial deletions of 7q11.23 cause Williams–Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype…”
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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy by Nabais Sá, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurélien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amélie, Vincent-Delorme, Catherine, Zweier, Christiane, Reis, André, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, van Dooren, Marieke F., van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michèl A., de Vries, Bert B.A., de Brouwer, Arjan P.M., Koolen, David A.

“…To delineate the genotype–phenotype correlation in individuals with likely pathogenic variants in the CLTC gene. We describe 13 individuals with de novo CLTC…”
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome: Emerging Microdeletion and Microduplication Syndromes by VAN DER AA, Nathalie, ROOMS, Liesbeth, DESTREE, Anne, MAYSTADT, Isabelle, MÄNNIK, Katrin, KURG, Ants, REIMAND, Tiia, MCMULLAN, Dom, OLEY, Christine, BRUETON, Louise, BONGERS, Ernie M. H. F, VAN BON, Bregje W. M, VANDEWEYER, Geert, PFUND, Rolph, JACQUEMONT, Sebastien, FERRARINI, Alessandra, MARTINET, Danielle, SCHRANDER-STUMPEL, Connie, STEGMANN, Alexander P. A, FRINTS, Suzanna G. M, DE VRIES, Bert B. A, CEULEMANS, Berten, KOOY, R. Frank, VAN DEN ENDE, Jenneke, REYNIERS, Edwin, FICHERA, Marco, ROMANO, Corrado, DELLE CHIAIE, Barbara, MORTIER, Geert, MENTEN, Björn

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