Resultados da busca - Hennekam, Raoul C.M.

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

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

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