No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy
de Greef, Bianca T A, Hoeijmakers, Janneke G J, Wolters, Emma E, Smeets, Hubertus J M, van den Wijngaard, Arthur, Merkies, Ingemar S J, Faber, Catharina G, Gerrits, Monique M
Published in PloS one (11.02.2016)
Published in PloS one (11.02.2016)
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Yield of peripheral sodium channels gene screening in pure small fibre neuropathy
Eijkenboom, Ivo, Sopacua, Maurice, Hoeijmakers, Janneke G J, de Greef, Bianca T A, Lindsey, Patrick, Almomani, Rowida, Marchi, Margherita, Vanoevelen, Jo, Smeets, Hubertus J M, Waxman, Stephen G, Lauria, Giuseppe, Merkies, Ingemar S J, Faber, Catharina G, Gerrits, Monique M
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Published in Journal of neurology, neurosurgery and psychiatry (01.03.2019)
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A novel orthotopic mouse model replicates human lung cancer cachexia
Worp, Wouter R.P.H., Theys, Jan, González, Alba Sanz, Heyden, Brent, Verhaegen, Frank, Hauser, Duncan, Caiment, Florian, Smeets, Hubertus J.M., Schols, Annemie M.W.J., Helvoort, Ardy, Langen, Ramon C.J.
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Published in Journal of cachexia, sarcopenia and muscle (01.06.2023)
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Cloning of the essential myotonic dystrophy region and mapping of the putative defect
Aslanidis, Charalampos, Jansen, Gert, Amemiya, Chris, Shutler, Gary, Mahadevan, Mani, Tsilfidis, Catherine, Chen, Chira, Alleman, Jennifer, Wormskamp, Nicole G. M, Vooijs, Mark, Buxton, Jessica, Johnson, Keith, Smeets, Hubertus J. M, Lennon, Gregory G, Carrano, Anthony V, Korneluk, Robert G, Wieringa, Bé, de Jong, Pieter J
Published in Nature (London) (06.02.1992)
Published in Nature (London) (06.02.1992)
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Influence of Mutation Type on Clinical Expression of Leber Hereditary Optic Neuropathy
Spruijt, Liesbeth, Kolbach, Dinanda N., de Coo, Rene F., Plomp, Astrid S., Bauer, Noel J., Smeets, Hubertus J., de Die-Smulders, Christine E.M.
Published in American journal of ophthalmology (01.04.2006)
Published in American journal of ophthalmology (01.04.2006)
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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2
Kevelam, Sietske H.G., van Harssel, Jeske J.T., van der Zwaag, Bert, Smeets, Hubertus J.M., Paulussen, Aimee D.C., Lichtenbelt, Klaske D.
Published in American journal of medical genetics. Part A (01.01.2012)
Published in American journal of medical genetics. Part A (01.01.2012)
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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
Paulussen, Aimée D C, Schrander-Stumpel, Constance T, Tserpelis, Demis C J, Spee, Matteus K M, Stegmann, Alexander P A, Mancini, Grazia M, Brooks, Alice S, Collée, Margriet, Maat-Kievit, Anneke, Simon, Marleen E H, van Bever, Yolande, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Herkert, Johanna C, van Essen, Anthonie J, Lichtenbelt, Klaske D, van Haeringen, Arie, Kwee, Mei L, Lachmeijer, Augusta M A, Tan-Sindhunata, Gita M B, van Maarle, Merel C, Arens, Yvonne H J M, Smeets, Eric E J G L, de Die-Smulders, Christine E, Engelen, John J M, Smeets, Hubertus J, Herbergs, Jos
Published in European journal of human genetics : EJHG (01.09.2010)
Published in European journal of human genetics : EJHG (01.09.2010)
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A Patient With a Mild Holoprosencephaly Spectrum Phenotype and Heterotaxy and a 1.3 Mb Deletion Encompassing GL12
KEVELAM, Sietske H. G, VAN HARSSEL, Jeske J. T, DER ZWAAG, Bert Van, SMEETS, Hubertus J. M, PAULUSSEN, Aimee D. C, LICHTENBEIT, Klaske D
Published in American journal of medical genetics. Part A (2012)
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Published in American journal of medical genetics. Part A (2012)
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Mitochondrial DNA damage analysis in bronchoalveolar lavage cells of preterm infants
Zoer, Bea, Been, Jasper Valentijn, Jongen, Eveline, Debeer, Anne, Hendrickx, Alexandra, Smeets, Hubertus J, Zimmermann, Luc Jacques, Villamor, Eduardo
Published in Frontiers in bioscience (Elite edition) (01.01.2010)
Published in Frontiers in bioscience (Elite edition) (01.01.2010)
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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3Mb deletion encompassing GLI2
Kevelam, Sietske HG, van Harssel, Jeske JT, van der Zwaag, Bert, Smeets, Hubertus JM, Paulussen, Aimee DC, Lichtenbelt, Klaske D
Published in American journal of medical genetics. Part A (01.01.2012)
Published in American journal of medical genetics. Part A (01.01.2012)
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No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy: e0148316
Greef, T Ade, Hoeijmakers, Janneke GJ, Wolters, Emma E, Smeets, Hubertus JM, Wijngaard, Arthur vanden, Merkies, Ingemar SJ, Faber, Catharina G, Gerrits, Monique M
Published in PloS one (01.02.2016)
Published in PloS one (01.02.2016)
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Prader–Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15
Smeets, Dominique F.C.M, Smeets, Hubertus J.M, Hamel, Ben C.J, Nelen, Marcel R, Bollen, Josephus H.M, Smits, Arie P.T, Ropers, Hans-Hilger, van Oost, Bernard A
Published in The New England journal of medicine (19.03.1992)
Published in The New England journal of medicine (19.03.1992)
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Brief Report: Prader-Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15
Smeets, Dominique FCM, Hamel, Ben CJ, Nelen, Marcel R, Smeets, Hubertus JM, Bollen, Josephus HM, Smits, Arie PT, Ropers, Hans-Hilger, van Oost, Bernard A
Published in The New England journal of medicine (19.03.1992)
Published in The New England journal of medicine (19.03.1992)
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