Canlyniadau Chwilio - Hennekam, Raoul C. M. 

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

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

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Rubinstein–Taybi syndrome (CREBBP, EP300) gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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) gan 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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