A comparison of genotyping arrays
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Published in European journal of human genetics : EJHG (01.11.2021)
Published in European journal of human genetics : EJHG (01.11.2021)
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Congenital hypopituitarism in two brothers with a duplication of the ‘acrogigantism gene’ GPR101: clinical findings and review of the literature
Elizabeth, Melitza S. M., Verkerk, Annemieke J. M. H., Hokken-Koelega, Anita C. S., Verlouw, Joost A. M., Argente, Jesús, Pfaeffle, Roland, Neggers, Sebastian J. C. M. M., Visser, Jenny A., de Graaff, Laura C. G.
Published in Pituitary (01.04.2021)
Published in Pituitary (01.04.2021)
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Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch’s Membrane
Corominas, Jordi, Colijn, Johanna M., Geerlings, Maartje J., Pauper, Marc, Bakker, Bjorn, Amin, Najaf, Lores Motta, Laura, Kersten, Eveline, Garanto, Alejandro, Verlouw, Joost A.M., van Rooij, Jeroen G.J., Kraaij, Robert, de Jong, Paulus T.V.M., Hofman, Albert, Vingerling, Johannes R., Schick, Tina, Fauser, Sascha, de Jong, Eiko K., van Duijn, Cornelia M., Hoyng, Carel B., Klaver, Caroline C.W., den Hollander, Anneke I.
Published in Ophthalmology (Rochester, Minn.) (01.09.2018)
Published in Ophthalmology (Rochester, Minn.) (01.09.2018)
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Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly
Elizabeth, Melitza S.M., Verkerk, Annemieke J.M.H., Hokken-Koelega, Anita C.S., Verlouw, Joost A.M., Argente, Jesús, Pfaeffle, Roland, Visser, Theo J., Peeters, Robin P., De Graaff, Laura C.G.
Published in Growth hormone & IGF research (01.02.2020)
Published in Growth hormone & IGF research (01.02.2020)
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Bone transcriptome sequencing reveals local tissue determinants of bone mineral density
Prijatelj, Vid, Reppe, Sjur, Dietz, Matthew, Medina-Gomez, Carolina M., Verlouw, Joost A., van Wijnen, Andre J., Gautvik, Kaare M., Wolvius, Eppo B., Rivadeneira, Fernando
Published in Bone Reports (01.10.2020)
Published in Bone Reports (01.10.2020)
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Differential expression analysis of osteoarthritic femoral head bone fragments uncovers underlying transcriptomic determinants
Prijatelj, Vid, Reppe, Sjur, Dietz, Matthew, Medina-Gomez, Carolina M., Verlouw, Joost A., Boer, Cindy G., van Meurs, Joyce B.J., van Wijnen, Andre J., Gautvik, Kaare M., Wolvius, Eppo B., Rivadeneira, Fernando
Published in Bone Reports (01.10.2020)
Published in Bone Reports (01.10.2020)
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Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma
Verkerk, Annemieke J.M.H., Andrei, Daniela, Vermeer, Mathilde C.S.C., Kramer, Duco, Schouten, Marloes, Arp, Pascal, Verlouw, Joost A.M., Pas, Hendri H., Meijer, Hillegonda J., van der Molen, Marije, Oberdorf-Maass, Silke, Nijenhuis, Miranda, Romero-Herrera, Pedro H., Hoes, Martijn F., Bremer, Jeroen, Slotman, Johan A., van den Akker, Peter C., Diercks, Gilles F.H., Giepmans, Ben N.G., Stoop, Hans, Saris, Jasper, van den Ouweland, Ans M.W., Willemsen, Rob, Hublin, Jean-Jacques, Dean, M.Christopher, Hoogeboom, A.Jeannette M., Silljé, Herman H.W., Uitterlinden, André G., van der Meer, Peter, Bolling, Maria C.
Published in Journal of investigative dermatology (01.02.2024)
Published in Journal of investigative dermatology (01.02.2024)
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Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures
Zhou, Wei, Nguyen, Hanh H., Laarschot, Denise M., Howe, Tet Sen, Koh, Joyce S.B., Milat, Frances, van Rooij, Jeroen G.J., Verlouw, Joost A.M., van der Eerden, Bram C.J., Stevenson, Mark, Thakker, Rajesh V., Zillikens, M. Carola, Ebeling, Peter R.
Published in JBMR plus (01.08.2022)
Published in JBMR plus (01.08.2022)
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Journal Article
Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures
Zhou, Wei, Nguyen, Hanh H, van de Laarschot, Denise M, Howe, Tet Sen, Koh, Joyce S B, Milat, Frances, van Rooij, Jeroen G J, Verlouw, Joost A M, van der Eerden, Bram C J, Stevenson, Mark, Thakker, Rajesh V, Zillikens, M Carola, Ebeling, Peter R
Published in JBMR plus (01.08.2022)
Published in JBMR plus (01.08.2022)
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