Rezultati pretrage - Hennekam, Raoul C.M.

Reply to Happle od Houge, Gunnar, Hennekam, Raoul C M

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Regulating biobanking with children's tissue: a legal analysis and the experts' view od Kranendonk, Elcke J, Ploem, M Corrette, Hennekam, Raoul C M

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Rubinstein–Taybi syndrome (CREBBP, EP300) od van Belzen, Martine, Bartsch, Oliver, Lacombe, Didier, Peters, Dorien J M, Hennekam, Raoul C M

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Growth charts for children with Ellis–van Creveld syndrome od Verbeek, Sabine, Eilers, Paul H. C., Lawrence, Kate, Hennekam, Raoul C. M., Versteegh, Florens G. A.

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Face shape differs in phylogenetically related populations od Hopman, Saskia M J, Merks, Johannes H M, Suttie, Michael, Hennekam, Raoul C M, Hammond, Peter

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Elements of Morphology: Standard Terminology for the External Genitalia od Hennekam, Raoul C.M., Allanson, Judith E., Biesecker, Leslie G., Carey, John C., Opitz, John M., Vilain, Eric

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Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system od de Winter, Channa F., Baas, Melanie, Bijlsma, Emilia K., van Heukelingen, John, Routledge, Sue, Hennekam, Raoul C. M.

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Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings od Chen, Bee Chin, Mohd Rawi, Rowani, Meinsma, Rutger, Meijer, Judith, Hennekam, Raoul C.M., van Kuilenburg, André B.P.

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Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1 od van Kuilenburg, André B. P., Meijer, Judith, Meinsma, Rutger, Pérez-Dueñas, Belén, Alders, Marielle, Bhuiyan, Zahurul A., Artuch, Rafael, Hennekam, Raoul C. M.

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Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase od Lesnik Oberstein, Saskia A. J., Kriek, Marjolein, White, Stefan J., Kalf, Margot E., Szuhai, Karoly, den Dunnen, Johan T., Breuning, Martijn H., Hennekam, Raoul C. M.

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Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ(14)-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene od Waterham, Hans R., Koster, Janet, Mooyer, Petra, Noort, Gerard van, Kelley, Richard I., Wilcox, William R., Wanders, Ronald J. A., Hennekam, Raoul C. M., Oosterwijk, Jan C.

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Mutations in the 3β-Hydroxysterol Δ(24)-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis od Waterham, Hans R., Koster, Janet, Romeijn, Gerrit Jan, Hennekam, Raoul C.M., Vreken, Peter, Andersson, Hans C., FitzPatrick, David R., Kelley, Richard. I., Wanders, Ronald J. A.

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The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience od Douzgou, Sofia, Dell’Oro, Janet, Fonseca, Cristina Rodriguez, Rei, Alessandra, Mullins, Jo, Jusiewicz, Isabelle, Huisman, Sylvia, Simpson, Brittany N., Vyshka, Klea, Milani, Donatella, Bartsch, Oliver, Lacombe, Didier, García-Miñaúr, Sixto, Hennekam, Raoul C. M.

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CACNA1B mutation is linked to unique myoclonus-dystonia syndrome od Groen, Justus L., Andrade, Arturo, Ritz, Katja, Jalalzadeh, Hamid, Haagmans, Martin, Bradley, Ted E.J., Jongejan, Aldo, Verbeek, Dineke S., Nürnberg, Peter, Denome, Sylvia, Hennekam, Raoul C.M., Lipscombe, Diane, Baas, Frank, Tijssen, Marina A.J.

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Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome od Goodman, Frances R., Bacchelli, Chiara, Brady, Angela F., Brueton, Louise A., Fryns, Jean-Pierre, Mortlock, Douglas P., Innis, Jeffrey W., Holmes, Lewis B., Donnenfeld, Alan E., Feingold, Murray, Beemer, Frits A., Hennekam, Raoul C. M., Scambler, Peter J.

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Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions od Bredrup, Cecilie, Cristea, Ileana, Safieh, Leen Abu, Di Maria, Emilio, Gjertsen, Bjørn Tore, Tveit, Kåre Steinar, Thu, Frode, Bull, Nils, Edward, Deepak P, Hennekam, Raoul C M, Høvding, Gunnar, Haugen, Olav H, Houge, Gunnar, Rødahl, Eyvind, Bruland, Ove

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Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions od Kasperavičiūtė, Dalia, Catarino, Claudia B., Chinthapalli, Krishna, Clayton, Lisa M. S., Thom, Maria, Martinian, Lillian, Cohen, Hannah, Adalat, Shazia, Bockenhauer, Detlef, Pope, Simon A., Lench, Nicholas, Koltzenburg, Martin, Duncan, John S., Hammond, Peter, Hennekam, Raoul C. M., Land, John M., Sisodiya, Sanjay M.

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Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size od Bond, Jacquelyn, Scott, Sheila, Hampshire, Daniel J., Springell, Kelly, Corry, Peter, Abramowicz, Marc J., Mochida, Ganesh H., Hennekam, Raoul C. M., Maher, Eamonn R., Fryns, Jean-Pierre, Alswaid, Abdulrahman, Jafri, Hussain, Rashid, Yasmin, Mubaidin, Ammar, Walsh, Christopher A., Roberts, Emma, Woods, C. Geoffrey

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Familial Syndromic Esophageal Atresia Maps to 2p23-p24 od Celli, Jacopo, van Beusekom, Ellen, Hennekam, Raoul C. M., Gallardo, M. Esther, Smeets, Dominique F. C. M., de Córdoba, Santiago Rodríguez, Innis, Jeffrey W., Frydman, Moshe, König, Rainer, Kingston, Helen, Tolmie, John, Govaerts, Lutgarde C. P., van Bokhoven, Hans, Brunner, Han G.

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Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) od Zweier, Christiane, Peippo, Maarit M., Hoyer, Juliane, Sousa, Sérgio, Bottani, Armand, Clayton-Smith, Jill, Reardon, William, Saraiva, Jorge, Cabral, Alexandra, Göhring, Ina, Devriendt, Koen, de Ravel, Thomy, Bijlsma, Emilia K., Hennekam, Raoul C. M., Orrico, Alfredo, Cohen, Monika, Dreweke, Alexander, Reis, André, Nürnberg, Peter, Rauch, Anita

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