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H

Hehr, Ute and Hehr, A. and Uyanik, G. and Phelan, E. and Winkler, J. and Reardon, W. (2006) A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. JOURNAL OF MEDICAL GENETICS, 43 (6). pp. 541-544. ISSN 0022-2593

S

Solomon, Benjamin D. and Bear, Kelly A. and Wyllie, Adrian and Keaton, Amelia A. and Dubourg, Christele and David, Veronique and Mercier, Sandra and Odent, Sylvie and Hehr, Ute and Paulussen, Aimee and Clegg, Nancy J. and Delgado, Mauricio R. and Bale, Sherri J. and Lacbawan, Felicitas and Ardinger, Holly H. and Aylsworth, Arthur S. and Bhengu, Ntombenhle Louisa and Braddock, Stephen and Brookhyser, Karen and Burton, Barbara and Gaspar, Harald and Grix, Art and Horovitz, Dafne and Kanetzke, Erin and Kayserili, Hulya and Lev, Dorit and Nikkel, Sarah M. and Norton, Mary and Roberts, Richard and Saal, Howard and Schaefer, G. B. and Schneider, Adele and Smith, Erika K. and Sowry, Ellen and Spence, M. Anne and Shalev, Stavit A. and Steiner, Carlos E. and Thompson, Elizabeth M. and Winder, Thomas L. and Balog, Joan Z. and Hadley, Donald W. and Zhou, Nan and Pineda-Alvarez, Daniel E. and Roessler, Erich and Muenke, Maximilian (2012) Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. JOURNAL OF MEDICAL GENETICS, 49 (7). pp. 473-479. ISSN 0022-2593

Solomon, Benjamin D. and Lacbawan, Felicitas and Mercier, Sandra and Clegg, Nancy J. and Delgado, Mauricio R. and Rosenbaum, Kenneth and Dubourg, Christele and David, Veronique and Olney, Ann Haskins and Wehner, Lars-Erik and Hehr, Ute and Bale, Sherri and Paulussen, Aimee and Smeets, Hubert J. and Hardisty, Emily and Tylki-Szymanska, Anna and Pronicka, Ewa and Clemens, Michelle and McPherson, Elizabeth and Hennekam, Raoul C. M. and Hahn, Jin and Stashinko, Elaine and Levey, Eric and Wieczorek, Dagmar and Roeder, Elizabeth and Schell-Apacik, Chayim Can and Booth, Carol W. and Thomas, Ronald L. and Kenwrick, Sue and Cummings, Derek A. T. and Bous, Sophia M. and Keaton, Amelia and Balog, Joan Z. and Hadley, Donald and Zhou, Nan and Long, Robert and Velez, Jorge I. and Pineda-Alvarez, Daniel E. and Odent, Sylvie and Roessler, Erich and Muenke, Maximilian (2010) Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. JOURNAL OF MEDICAL GENETICS, 47 (8). pp. 513-524. ISSN 0022-2593