Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia
Taillandier, A., Cozien, E., Muller, F., Merrien, Y., Bonnin, E., Fribourg, C., Simon-Bouy, B., Serre, J.L., Bieth, E., Brenner, R., Cordier, M.P., De Bie, S., Fellmann, F., Freisinger, P., Hesse, V., Hennekam, R.C.M., Josifova, D., Kerzin-Storrar, L., Leporrier, N., Zabot, M.T., Mornet, E.
Published in Human mutation (01.03.2000)
Published in Human mutation (01.03.2000)
Get full text
Journal Article
Molecular basis of unilateral condylar hyperplasia?
Nolte, J.W., Alders, M., Karssemakers, L.H.E., Becking, A.G., Hennekam, R.C.M.
Published in International journal of oral and maxillofacial surgery (01.11.2020)
Published in International journal of oral and maxillofacial surgery (01.11.2020)
Get full text
Journal Article
Development and validation of a severity scoring system for Zellweger spectrum disorders
Klouwer, F.C.C., Meester‐Delver, A., Vaz, F.M., Waterham, H.R., Hennekam, R.C.M., Poll‐The, B.T.
Published in Clinical genetics (01.03.2018)
Published in Clinical genetics (01.03.2018)
Get full text
Journal Article
Keloids in Rubinstein-Taybi syndrome: a clinical study
van de Kar, A.L., Houge, G., Shaw, A.C., de Jong, D., van Belzen, M.J., Peters, D.J.M., Hennekam, R.C.M.
Published in British journal of dermatology (1951) (01.09.2014)
Published in British journal of dermatology (1951) (01.09.2014)
Get full text
Journal Article
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families
Callewaert, B.L, Willaert, A, Kerstjens-Frederikse, W.S, De Backer, J, Devriendt, K, Albrecht, B, Ramos-Arroyo, M.A, Doco-Fenzy, M, Hennekam, R.C.M, Pyeritz, R.E, Krogmann, O.N, Gillessen-kaesbach, G, Wakeling, E.L, Nik-zainal, S, Francannet, C, Mauran, P, Booth, C, Barrow, M, Dekens, R, Loeys, B.L, Coucke, P.J, De Paepe, A.M
Published in Human mutation (2008)
Published in Human mutation (2008)
Get full text
Journal Article
Frequent intragenic rearrangements of DPYD in colorectal tumours
van Kuilenburg, A B P, Etienne-Grimaldi, M-C, Mahamat, A, Meijer, J, Laurent-Puig, P, Olschwang, S, Gaub, M-P, Hennekam, R C M, Benchimol, D, Houry, S, Letoublon, C, Gilly, F-N, Pezet, D, Andre, T, Faucheron, J-L, Abderrahim-Ferkoune, A, Vijzelaar, R, Pradere, B, Milano, G
Published in The pharmacogenomics journal (01.06.2015)
Published in The pharmacogenomics journal (01.06.2015)
Get full text
Journal Article
Growth-Reductive Therapy in Children with Marfan Syndrome
Rozendaal, L., le Cessie, S., Wit, J.M., Hennekam, R.C.M., the Dutch Marfan Working Group
Published in The Journal of pediatrics (01.11.2005)
Published in The Journal of pediatrics (01.11.2005)
Get full text
Journal Article
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene
Kuijpers, T W, Ridanpää, M, Peters, M, de Boer, I, Vossen, J M J J, Pals, S T, Kaitila, I, Hennekam, R C M
Published in Journal of medical genetics (01.10.2003)
Published in Journal of medical genetics (01.10.2003)
Get full text
Journal Article
An aetiological study of 25 mentally retarded adults with autism
van Karnebeek, C D M, van Gelderen, I, Nijhof, G J, Abeling, N G, Vreken, P, Redeker, E J, van Eeghen, A M, Hoovers, J M N, Hennekam, R C M
Published in Journal of medical genetics (01.03.2002)
Published in Journal of medical genetics (01.03.2002)
Get full text
Journal Article
Genetic heterogeneity in tuberous sclerosis
Janssen, L.A.J., Sandkuyl, L.A., Merkens, E.C., Maat-Kievit, J.A., Sampson, J.R., Fleury, P., Hennekam, R.C.M., Grosveld, G.C., Lindhout, D., Halley, D.J.J.
Published in Genomics (San Diego, Calif.) (01.10.1990)
Published in Genomics (San Diego, Calif.) (01.10.1990)
Get full text
Journal Article
Deletion at chromosome 16p13. 3 as a cause of Rubinstein-Taybi syndrome: Clinical aspects
Hennekam, R.C.M., Tilanus, M., Boogaard, M.J.H. van den, Hamel, B.C.J., Voshart-van Heeren, H., Mariman, E.C.M., Beersum, S.E.C. van, Breuning, M.H.
Published in American journal of human genetics (01.02.1993)
Get full text
Published in American journal of human genetics (01.02.1993)
Journal Article
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13. 3
Breuning, M.H., Dauwerse, H.G., Fugazza, G., Saris, J.J., Spruit, L., Winjnen, H., Beverstock, G.C., Ommen, G.J.B. van, Tommerup, N., Hagen, C.B. van der, Imaizumi, Kiyoshi, Kuroki, Yoshikazu, Boogaard, M.J. van den, Pater, J.M. de, Hennekam, R.C.M., Mariman, E.C.M., Hamel, B.C.J., Himmelbauer, H., Frischauf, A.M., Stallings, R.L.
Published in American journal of human genetics (01.02.1993)
Get full text
Published in American journal of human genetics (01.02.1993)
Journal Article
An outbreak of gastroenteritis due to Escherichia coli 0142 H6 in a neonatal department
Gerards, L.J., Hennekam, R.C.M., Dijk, W.C.v., Roord, J.J., Fleer, A.
Published in The Journal of hospital infection (01.09.1984)
Published in The Journal of hospital infection (01.09.1984)
Get full text
Journal Article
18q- and 18q+ mosaicism in a mentally retarded boy
Ausems, M G, Bhola, S L, Post-Blok, C A, Hennekam, R C, de France, H F
Published in American journal of medical genetics (15.11.1994)
Published in American journal of medical genetics (15.11.1994)
Get more information
Journal Article