Generic Portal

High rate of mosaicism in individuals with Cornelia de Lange syndrome

Huisman, S. A., Redeker, E. J. W., Maas, S. M., Mannens, M. M. & Hennekam, R. C. M., 2013, In: Journal of medical genetics. 50, 5, p. 339-344

Research output: Contribution to journal › Article › Academic › peer-review

Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome

Schneider, A., Maas, S. M., Hennekam, R. C. M. & Hanauer, A., 2013, In: European journal of medical genetics. 56, 3, p. 150-152

Research output: Contribution to journal › Comment/Letter to the editor › Academic

Intellectual disability and hemizygous GPD2 mutation

Barge-Schaapveld, D. Q. C. M., Ofman, R., Knegt, A. C., Alders, M., Höhne, W., Kemp, S. & Hennekam, R. C. M., 2013, In: American journal of medical genetics. Part A. 161A, 5, p. 1044-1050

Research output: Contribution to journal › Article › Academic › peer-review

Intellectual disability, unusual facial morphology and hand anomalies in sibs

Sousa, S. B., Venâncio, M., Chanudet, E., Palmer, R., Ramos, L., Beales, P. L., Moore, G. E., Saraiva, J. M. & Hennekam, R. C., 2013, In: American journal of medical genetics. Part A. 161A, 10, p. 2401-2406

Research output: Contribution to journal › Article › Academic › peer-review

Introduction: bringing science to early life nutrition

van Goudoever, J. B. & Boehm, G., 2013, In: American journal of clinical nutrition. 98, 2, p. 519S-520S

Research output: Contribution to journal › Editorial › Academic › peer-review

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

Tucci, A., Kara, E., Schossig, A., Wolf, N. I., Plagnol, V., Fawcett, K., Paisán-Ruiz, C., Moore, M., Hernandez, D., Musumeci, S., Tennison, M., Hennekam, R., Palmeri, S., Malandrini, A., Raskin, S., Donnai, D., Hennig, C., Tzschach, A., Hordijk, R., Bast, T., & 11 othersWimmer, K., Lo, C-N., Shorvon, S., Mefford, H., Eichler, E. E., Hall, R., Hayes, I., Hardy, J., Singleton, A., Zschocke, J. & Houlden, H., 2013, In: Human mutation. 34, 2, p. 296-300

Research output: Contribution to journal › Article › Academic › peer-review

Modulation of the gut microbiota with antibiotic treatment suppresses whole body urea production in neonatal pigs

Puiman, P., Stoll, B., Mølbak, L., de Bruijn, A., Schierbeek, H., Boye, M., Boehm, G., Renes, I., van Goudoever, J. & Burrin, D., 2013, In: American journal of physiology. Gastrointestinal and liver physiology. 304, 3, p. G300-G310

Research output: Contribution to journal › Article › Academic › peer-review

Neonatal and parental predictors of executive function in very preterm children

Aarnoudse-Moens, C. S. H., Weisglas-Kuperus, N., Duivenvoorden, H. J., Oosterlaan, J. & van Goudoever, J. B., 2013, In: Acta paediatrica (Oslo, Norway. 102, 3, p. 282-286

Research output: Contribution to journal › Article › Academic › peer-review

New insights into the methodological issues of the indicator amino acid oxidation method in preterm neonates

de Groof, F., Huang, L., Twisk, J. W. R., Voortman, G. J., Joemai, W., Hau, C. H., Schierbeek, H., Chen, C., Huang, Y. & van Goudoever, J. B., 2013, In: Pediatric research. 73, 5, p. 679-684

Research output: Contribution to journal › Article › Academic › peer-review

Optimal Growth of Preterm Infants

Corpeleijn, W. E., Kouwenhoven, S. M. P. & van Goudoever, J. B., 2013, In: World review of nutrition and dietetics. 106, p. 149-155

Research output: Contribution to journal › Article › Academic › peer-review