Body Integrity Identity Disorder

por Blom, Rianne M., Hennekam, Raoul C., Denys, Damiaan
Publicado 2012

Paediatric biobanking: Dutch experts reflecting on appropriate legal standards for practice

por Kranendonk, Elcke J., Hennekam, Raoul C., Ploem, M. Corrette
Publicado 2016

Renal malformations associated with mutations of developmental genes: messages from the clinic

por Adalat, Shazia, Bockenhauer, Detlef, Ledermann, Sarah E., Hennekam, Raoul C., Woolf, Adrian S.
Publicado 2010

Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis

por Cardy, Amanda H., Sharp, Linda, Torrance, Nicola, Hennekam, Raoul C., Miedzybrodzka, Zosia
Publicado 2011

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.
Publicado 2010

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.
Publicado 2016

Genetic susceptibility for cow’s milk allergy in Dutch children: the start of the allergic march?

por Henneman, Peter, Petrus, Nicole C. M., Venema, Andrea, van Sinderen, Femke, van der Lip, Karin, Hennekam, Raoul C., Mannens, Marcel, Sprikkelman, Aline B.
Publicado 2016

Benign and malignant tumors in Rubinstein–Taybi syndrome

por Boot, Max V., van Belzen, Martine J., Overbeek, Lucy I., Hijmering, Nathalie, Mendeville, Matias, Waisfisz, Quinten, Wesseling, Pieter, Hennekam, Raoul C., de Jong, Daphne
Publicado 2018

Cornelia de Lange syndrome and cancer: An open question

por Pallotta, Maria M., Di Nardo, Maddalena, Hennekam, Raoul C. M., Kaiser, Frank J., Parenti, Ilaria, Pié, Juan, Ramos, Feliciano J., Kline, Antonie D., Musio, Antonio
Publicado 2022

Cow’s milk allergy in Dutch children: an epigenetic pilot survey

por Petrus, Nicole C. M., Henneman, Peter, Venema, Andrea, Mul, Adri, van Sinderen, Femke, Haagmans, Martin, Mook, Olaf, Hennekam, Raoul C., Sprikkelman, Aline B., Mannens, Marcel
Publicado 2016

Morphological Features in Children with Autism Spectrum Disorders: A Matched Case–Control Study

por Ozgen, Heval, Hellemann, Gerhard S., Stellato, Rebecca K., Lahuis, Bertine, van Daalen, Emma, Staal, Wouter G., Rozendal, Marije, Hennekam, Raoul C., Beemer, Frits A., van Engeland, Herman
Publicado 2010

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

por Kariminejad, Ariana, Ajeawung, Norbert Fonya, Bozorgmehr, Bita, Dionne-Laporte, Alexandre, Molidperee, Sirinart, Najafi, Kimia, Gibbs, Richard A, Lee, Brendan H, Hennekam, Raoul C, Campeau, Philippe M
Publicado 2016

Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas

por Kantaputra, Piranit Nik, Tripuwabhrut, Kanich, Anthonappa, Robert P., Chintakanon, Kanoknart, Ngamphiw, Chumpol, Adisornkanj, Ploy, Porntrakulseree, Nop, Olsen, Bjorn, Intachai, Worrachet, Hennekam, Raoul C., Vieira, Alexandre R., Tongsima, Sissades
Publicado 2023

Germline Melanocortin-1-Receptor Genotype Is Associated with Severity of Cutaneous Phenotype in Congenital Melanocytic Nevi: A Role for MC1R in Human Fetal Development

por Kinsler, Veronica A, Abu-Amero, Sayeda, Budd, Peter, Jackson, Ian J, Ring, Susan M, Northstone, Kate, Atherton, David J, Bulstrode, Neil W, Stanier, Philip, Hennekam, Raoul C, Sebire, Neil J, Moore, Gudrun E, Healy, Eugene
Publicado 2012

Mutations in IRS4 are associated with central hypothyroidism

por Heinen, Charlotte A, de Vries, Emmely M, Alders, Mariëlle, Bikker, Hennie, Zwaveling-Soonawala, Nitash, van den Akker, Erica L T, Bakker, Boudewijn, Hoorweg-Nijman, Gera, Roelfsema, Ferdinand, Hennekam, Raoul C, Boelen, Anita, van Trotsenburg, A S Paul, Fliers, Eric
Publicado 2018

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
Publicado 2021

Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism

por Matthews, Harold S., Palmer, Richard L., Baynam, Gareth S., Quarrell, Oliver W., Klein, Ophir D., Spritz, Richard A., Hennekam, Raoul C., Walsh, Susan, Shriver, Mark, Weinberg, Seth M., Hallgrimsson, Benedikt, Hammond, Peter, Penington, Anthony J., Peeters, Hilde, Claes, Peter D.
Publicado 2021

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.
Publicado 2011

Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre s...

por Postema, Floor A M, Hopman, Saskia M J, de Borgie, Corianne A J M, Hammond, Peter, Hennekam, Raoul C, Merks, Johannes H M, Aalfs, Cora M, Anninga, Jakob K, Berger, Lieke PV, Bleeker, Fonnet E, de Bont, Eveline SJM, de Borgie, Corianne AJM, Dommering, Charlotte J, van Eijkelenburg, Natasha KA, Hammond, Peter, Hennekam, Raoul C, van den Heuvel-Eibrink, Marry M, Hopman, Saskia MJ, Jongmans, Marjolijn CJ, Kors, Wijnanda A, Letteboer, Tom GW, Loeffen, Jan LCM, Merks, Johannes HM, Olderode-Berends, Maran JW, Postema, Floor AM, Wagner, Anja
Publicado 2017

A specific mutation in TBL1XR1 causes Pierpont syndrome

por Heinen, Charlotte A, Jongejan, Aldo, Watson, Peter J, Redeker, Bert, Boelen, Anita, Boudzovitch-Surovtseva, Olga, Forzano, Francesca, Hordijk, Roel, Kelley, Richard, Olney, Ann H, Pierpont, Mary Ella, Schaefer, G Bradley, Stewart, Fiona, van Trotsenburg, A S Paul, Fliers, Eric, Schwabe, John W R, Hennekam, Raoul C
Publicado 2016