Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis
Rump, P., Zeegers, M.P.A., van Essen, A.J.
Published in American journal of medical genetics. Part A (01.07.2005)
Published in American journal of medical genetics. Part A (01.07.2005)
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T.P.2
Gissy, J.J, Johnson, T, Fox, D.J, Kumar, A, Ciafaloni, E, Kim, S, Yang, M, van Essen, A.J, Finkel, R.S
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy
Schade van Westrum, S M, Hoogerwaard, E M, Dekker, L, Standaar, T S, Bakker, E, Ippel, P F, Oosterwijk, J C, Majoor-Krakauer, D F, van Essen, A J, Leschot, N J, Wilde, A A M, de Haan, R J, de Visser, M, van der Kooi, A J
Published in Neurology (05.07.2011)
Published in Neurology (05.07.2011)
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Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
Bijlsma, E.K, Gijsbers, A.C.J, Schuurs-Hoeijmakers, J.H.M, van Haeringen, A, Fransen van de Putte, D.E, Anderlid, B.-M, Lundin, J, Lapunzina, P, Pérez Jurado, L.A, Delle Chiaie, B, Loeys, B, Menten, B, Oostra, A, Verhelst, H, Amor, D.J, Bruno, D.L, van Essen, A.J, Hordijk, R, Sikkema-Raddatz, B, Verbruggen, K.T, Jongmans, M.C.J, Pfundt, R, Reeser, H.M, Breuning, M.H, Ruivenkamp, C.A.L
Published in European journal of medical genetics (01.03.2009)
Published in European journal of medical genetics (01.03.2009)
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T.P.2: The age of ambulation in boys with Duchenne muscular dystrophy and its use as an end-point in clinical trials
Gissy, J.J., Johnson, T., Fox, D.J., Kumar, A., Ciafaloni, E., Kim, S., Yang, M., van Essen, A.J., Finkel, R.S.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Circulating matrix γ‐carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome
CRANENBURG, E. C. M., VAN SPAENDONCK‐ZWARTS, K. Y., BONAFE, L., MITTAZ CRETTOL, L., RÖDIGER, L. A., DIKKERS, F. G., VAN ESSEN, A. J., SUPERTI‐FURGA, A., ALEXANDRAKIS, E., VERMEER, C., SCHURGERS, L. J., LAVERMAN, G. D.
Published in Journal of thrombosis and haemostasis (01.06.2011)
Published in Journal of thrombosis and haemostasis (01.06.2011)
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Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands
van den Bergen, J C, Ginjaar, H B, van Essen, A J, Pangalila, R, de Groot, I J M, Wijkstra, P J, Zijnen, M P, Cobben, N A M, Kampelmacher, M J, Wokke, B H A, de Coo, I F M, Fock, J M, Horemans, A M C, van Tol, M, Vroom, E, Rijlaarsdam, M E B, Straathof, C S M, Niks, E H, Verschuuren, J J G M
Published in Journal of neuromuscular diseases (2014)
Published in Journal of neuromuscular diseases (2014)
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Response to Fukuzawa et al. correspondence "Correct Usage of Loss Imprinting"
Rump, P., Zeegers, M.P.A., van Essen, A.J.
Published in American journal of medical genetics. Part A (01.11.2005)
Published in American journal of medical genetics. Part A (01.11.2005)
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Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?
Badeloe, S., Van Spaendonck-Zwarts, K.Y., Van Steensel, M.A.M., Van Marion, A.M.W., Van Essen, A.J., Jonkman, M.F., Steijlen, P.M., Poblete-Gutiérrez, P., Van Geel, M., Frank, J.
Published in British journal of dermatology (1951) (01.03.2009)
Published in British journal of dermatology (1951) (01.03.2009)
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Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy
Hoogerwaard, E.M., van der Wouw, P.A., Wilde, A.A.M., Bakker, E., Ippel, P.F., Oosterwijk, J.C., Majoor-Krakauer, D.F., van Essen, A.J., Leschot, N.J., de Visser, M.
Published in Neuromuscular disorders : NMD (01.07.1999)
Published in Neuromuscular disorders : NMD (01.07.1999)
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Neurofibromatosis type I and pregnancy: a fatal attraction?: Development of malignant schwannoma during pregnancy in a patient with neurofibromatosis type I
Posma, E., Aalbers, R., Kurniawan, Y.S., van Essen, A.J., Peeters, P.M.J.G., van Loon, A.J.
Published in BJOG : an international journal of obstetrics and gynaecology (01.05.2003)
Published in BJOG : an international journal of obstetrics and gynaecology (01.05.2003)
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Neurofibromatosis type I and pregnancy: a fatal attraction?: Development of malignant schwannoma during pregnancy in a patient with neurofibromatosis type I
Posma, E, Aalbers, R, Kurniawan, Y.S, van Essen, A.J, Peeters, P.M.J.G, van Loon, A.J
Published in BJOG : an international journal of obstetrics and gynaecology (01.05.2003)
Published in BJOG : an international journal of obstetrics and gynaecology (01.05.2003)
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Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele
Rump, P., Letteboer, T.G.W., Gille, J.J.P., Torringa, M.J.L., Baerts, W., van Gestel, J.P.J., Verheij, J.B.G.M., van Essen, A.J.
Published in American journal of medical genetics. Part A (01.02.2006)
Published in American journal of medical genetics. Part A (01.02.2006)
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Malpuech syndrome: Three patients and a review
Kerstjens‐Frederikse, W.S., Brunner, H.G., van Dael, C.M.L., van Essen, A.J.
Published in American journal of medical genetics. Part A (01.05.2005)
Published in American journal of medical genetics. Part A (01.05.2005)
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A novel γ-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy
van der Kooi, A.J, de Visser, M, van Meegen, M, Ginjaar, H.B, van Essen, A.J, Jennekens, F.G.I, Jongen, P.J.H, Leschot, N.J, Bolhuis, P.A
Published in Neuromuscular disorders : NMD (01.06.1998)
Published in Neuromuscular disorders : NMD (01.06.1998)
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Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: Isolation and use of J66 (DXS268), a distal intragenic marker
van Ommen, G.J.B., Bertelson, C., Ginjaar, H.B., den Dunnen, J.T, Bakker, E., Chelly, J., Matton, M., van Essen, A.J., Bartley, J., Kunkel, L.M., Pearson, P.L.
Published in Genomics (San Diego, Calif.) (01.12.1987)
Published in Genomics (San Diego, Calif.) (01.12.1987)
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Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele
Rump, P., Letteboer, T.G.W., Gille, J.J.P., Torringa, M.J.L., Baerts, W., van Gestel, J.P.J., Verheij, J.B.G.M., van Essen, A.J.
Published in American Journal of Medical Genetics Part A (01.02.2006)
Published in American Journal of Medical Genetics Part A (01.02.2006)
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