De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review
van den Akker, W.M.R., Brummelman, I., Martis, L.M., Timmermans, R.N., Pfundt, R., Kleefstra, T., Willemsen, M.H., Gerkes, E.H., Herkert, J.C., van Essen, A.J., Rump, P., Vansenne, F., Terhal, P.A., van Haelst, M.M., Cristian, I., Turner, C.E., Cho, M.T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K.L.I., Stegmann, A.P.A., de Vries, B.B.A., Schuurs‐Hoeijmakers, J.H.M.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
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Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features
Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal, P.A., Verhoeven, Virginie J.M., van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K.
Published in Neurogenetics (01.07.2016)
Published in Neurogenetics (01.07.2016)
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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
Pekkinen, Minna, Terhal, Paulien A, Botto, Lorenzo D, Henning, Petra, Mäkitie, Riikka E, Roschger, Paul, Jain, Amrita, Kol, Matthijs, Kjellberg, Matti A, Paschalis, Eleftherios P, van Gassen, Koen, Murray, Mary, Bayrak-Toydemir, Pinar, Magnusson, Maria K, Jans, Judith, Kausar, Mehran, Carey, John C, Somerharju, Pentti, Lerner, Ulf H, Olkkonen, Vesa M, Klaushofer, Klaus, Holthuis, Joost Cm, Mäkitie, Outi
Published in JCI insight (04.04.2019)
Published in JCI insight (04.04.2019)
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Complete COL1A1 allele deletions in osteogenesis imperfecta
van Dijk, Fleur S., Huizer, Margriet, Kariminejad, Ariana, Marcelis, Carlo L., Plomp, Astrid S., Terhal, Paulien A., Meijers-Heijboer, Hanne, Weiss, Marjan M., van Rijn, Rick R., Cobben, Jan M., Pals, Gerard
Published in Genetics in medicine (01.11.2010)
Published in Genetics in medicine (01.11.2010)
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Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
Sokoya, Tolulope, Parolek, Jan, Foged, Mads Møller, Danylchuk, Dmytro I, Bozan, Manuel, Sarkar, Bingshati, Hilderink, Angelika, Philippi, Michael, Botto, Lorenzo D, Terhal, Paulien A, Mäkitie, Outi, Piehler, Jacob, Kim, Yeongho, Burd, Christopher G, Klymchenko, Andrey S, Maeda, Kenji, Holthuis, Joost C M
Published in eLife (14.09.2022)
Published in eLife (14.09.2022)
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Journal Article
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
Pekkinen, Minna, Terhal, Paulien A., Botto, Lorenzo D., Henning, Petra, Mäkitie, Riikka E., Roschger, Paul, Jain, Amrita, Kol, Matthijs, Kjellberg, Matti A., Paschalis, Eleftherios P., van Gassen, Koen, Murray, Mary, Bayrak-Toydemir, Pinar, Magnusson, Maria K., Jans, Judith, Kausar, Mehran, Carey, John C., Somerharju, Pentti, Lerner, Ulf H., Olkkonen, Vesa M., Klaushofer, Klaus, Holthuis, Joost C.M., Mäkitie, Outi
Published in JCI insight (04.04.2019)
Published in JCI insight (04.04.2019)
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Developmental disorder in girls due to Rett syndrome
Pruissen, D M, Sinke, R J, Terhal, P A, Beemer, F A, Peters, A C
Published in Nederlands tijdschrift voor geneeskunde (09.08.2003)
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Published in Nederlands tijdschrift voor geneeskunde (09.08.2003)
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Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism
Terhal, Paulien, Sakkers, Ralph, Hochstenbach, Ron, Madan, Kamlesh, Rabelink, Gwenda, Sinke, Richard, Giltay, Jacques
Published in American journal of medical genetics. Part A (01.11.2004)
Published in American journal of medical genetics. Part A (01.11.2004)
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