CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
van der Tuin, Karin, Tops, Carli M J, Adank, Muriel A, Cobben, Jan-Maarten, Hamdy, Neveen A T, Jongmans, Marjolijn C, Menko, Fred H, van Nesselrooij, Bernadette P M, Netea-Maier, Romana T, Oosterwijk, Jan C, Valk, Gerlof D, Wolffenbuttel, Bruce H R, Hes, Frederik J, Morreau, Hans
Published in The journal of clinical endocrinology and metabolism (01.12.2017)
Published in The journal of clinical endocrinology and metabolism (01.12.2017)
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Journal Article
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
Bakhuizen, Jette J., Hanson, Helen, van der Tuin, Karin, Lalloo, Fiona, Tischkowitz, Marc, Wadt, Karin, Jongmans, Marjolijn C. J.
Published in Familial cancer (01.10.2021)
Published in Familial cancer (01.10.2021)
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Journal Article
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma
Bayley, Jean Pierre, Bausch, Birke, Jansen, Jeroen C, Hensen, Erik F, van der Tuin, Karin, Corssmit, Eleonora PM, Devilee, Peter, Neumann, Hartmut PH
Published in Journal of medical genetics (01.01.2023)
Published in Journal of medical genetics (01.01.2023)
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Journal Article
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study
van der Tuin, Karin, Mensenkamp, Arjen R, Tops, Carli M J, Corssmit, Eleonora P M, Dinjens, Winand N, van de Horst-Schrivers, Anouk N A, Jansen, Jeroen C, de Jong, Mirjam M, Kunst, Henricus P M, Kusters, Benno, Leter, Edward M, Morreau, Hans, van Nesselrooij, Bernadette M P, Oldenburg, Rogier A, Spruijt, Liesbeth, Hes, Frederik J, Timmers, Henri J L M
Published in The journal of clinical endocrinology and metabolism (01.02.2018)
Published in The journal of clinical endocrinology and metabolism (01.02.2018)
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Journal Article
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome
van der Tuin, Karin, de Kock, Leanne, Kamping, Eveline J, Hannema, Sabine E, Pouwels, Marie-Jose M, Niedziela, Marek, van Wezel, Tom, Hes, Frederik J, Jongmans, Marjolijn C, Foulkes, William D, Morreau, Hans
Published in The journal of clinical endocrinology and metabolism (01.02.2019)
Published in The journal of clinical endocrinology and metabolism (01.02.2019)
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Journal Article
Targetable gene fusions identified in radioactive iodine refractory advanced thyroid carcinoma
van der Tuin, K, Ventayol Garcia, M, Corver, W E, Khalifa, M N, Ruano Neto, D, Corssmit, E P M, Hes, F J, Links, T P, Smit, J W A, Plantinga, T S, Kapiteijn, E, van Wezel, T, Morreau, H
Published in European journal of endocrinology (01.04.2019)
Published in European journal of endocrinology (01.04.2019)
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Journal Article
Clinically-relevant Germline Variants in Children with Non-Medullary Thyroid Cancer
van der Tuin, Karin, Ruano, Dina, Knijnenburg, Jeroen, van der Luijt, Rob B, Morreau, Hans, Links, Thera P, Hes, Frederik J
Published in The journal of clinical endocrinology and metabolism (28.02.2024)
Published in The journal of clinical endocrinology and metabolism (28.02.2024)
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Journal Article
Putting genome-wide sequencing in neonates into perspective
van der Sluijs, Pleuntje J, Aten, Emmelien, Barge-Schaapveld, Daniela Q C M, Bijlsma, Emilia K, Bökenkamp-Gramann, Regina, Donker Kaat, Laura, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, Ten Harkel, Arend D J, Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J V, den Hollander, Nicolette S, van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A R, Peeters-Scholte, Cacha M P C D, Potjer, Thomas P, van Rij, Maartje, Ruivenkamp, Claudia A L, Rutten, Julie W, Steggerda, Sylke J, Suerink, Manon, Tan, Ratna N G B, van der Tuin, Karin, Visser, Remco, van der Werf-'t Lam, Anne-Sophie, Williams, Monique, Witlox, Ruben, Santen, Gijs W E
Published in Genetics in medicine (01.05.2019)
Published in Genetics in medicine (01.05.2019)
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Journal Article
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
Maas, Saskia M, Shaw, Adam C, Bikker, Hennie, Lüdecke, Hermann-Josef, van der Tuin, Karin, Badura-Stronka, Magdalena, Belligni, Elga, Biamino, Elisa, Bonati, Maria Teresa, Carvalho, Daniel R, Cobben, JanMaarten, de Man, Stella A, Den Hollander, Nicolette S, Di Donato, Nataliya, Garavelli, Livia, Grønborg, Sabine, Herkert, Johanna C, Hoogeboom, A. Jeannette M, Jamsheer, Aleksander, Latos-Bielenska, Anna, Maat-Kievit, Anneke, Magnani, Cinzia, Marcelis, Carlo, Mathijssen, Inge B, Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B, Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Silengo, Margharita, Simon, Marleen, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Polonkai, Edit, van den Ende, Jenneke, van der Steen, Antony, van Essen, Ton, van Haeringen, Arie, van Hagen, Johanna M, Verheij, Joke B.G.M, Mannens, Marcel M, Hennekam, Raoul C
Published in European journal of medical genetics (01.05.2015)
Published in European journal of medical genetics (01.05.2015)
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Journal Article
Correction: Putting genome-wide sequencing in neonates into perspective
van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q.C.M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Kaat, Laura Donker, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D.J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J.V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A.R., Peeters-Scholte, Cacha M.P.C.D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A.L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N.G.B., van der Tuin, Karin, Visser, Remco, van der Werf –’t Lam, Anne-Sophie, Williams, Monique, Witlox, Ruben, Santen, Gijs W.E.
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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Journal Article
A monogenetic disorder instead of type 1 diabetes
van der Tuin, Karin, de Vries, Linda S, van den Reek, Judith J C C, Odink, Roel J
Published in Nederlands tijdschrift voor geneeskunde (19.04.2023)
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Published in Nederlands tijdschrift voor geneeskunde (19.04.2023)
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