CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene von Jongmans, M C J, Admiraal, R J, van der Donk, K P, Vissers, L E L M, Baas, A F, Kapusta, L, van Hagen, J M, Donnai, D, de Ravel, T J, Veltman, J A, Geurts van Kessel, A, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A

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Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy von Moulson, Casey L., Go, Gloriosa, Gardner, Jennifer M., van der Wal, Allard C., Henk Sillevis Smitt, J., van Hagen, Johanna M., Miner, Jeffrey H.

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Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling von O’Driscoll, Mark, Dobyns, William B., van Hagen, Johanna M., Jeggo, Penny A.

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A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies von Majava, Marja, Hoornaert, Kristien P., Bartholdi, Deborah, Bouma, Mieke C., Bouman, Katelijne, Carrera, Marta, Devriendt, Koenraad, Hurst, Jane, Kitsos, George, Niedrist, Dunja, Petersen, Michael B., Shears, Debbie, Stolte-Dijkstra, Irene, Van Hagen, J.M., Ala-Kokko, Leena, Männikkö, Minna, Mortier, Geert R.

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Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions von Willemsen, MH, Beunders, G, Callaghan, M, de Leeuw, N, Nillesen, WM, Yntema, HG, van Hagen, JM, Nieuwint, AWM, Morrison, N, Keijzers-Vloet, STM, Hoischen, A, Brunner, HG, Tolmie, J, Kleefstra, T

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Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth von Revencu, N., Boon, L.M., Dompmartin, A., Rieu, P., Busch, W.L., Dubois, J., Forzano, F., van Hagen, J.M., Halbach, S., Kuechler, A., Lachmeijer, A.M.A., Lähde, J., Russell, L., Simola, K.O.J., Mulliken, J.B., Vikkula, M.

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Visual depth processing in Williams-Beuren syndrome von VAN DER GEEST, J. N, LAGERS-VAN HASELEN, G. C, VAN HAGEN, J. M, BRENNER, E, GOVAERTS, L. C. P, DE COO, I. F. M, FRENS, M. A

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Interstitial deletion in 3q in a patient with blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical repor... von de Ru, M.H., Gille, J.J.P., Nieuwint, A.W.M., Bijlsma, J.B., van der Blij, J.F., van Hagen, J.M.

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Saccade dysmetria in Williams–Beuren syndrome von van der Geest, J.N., Lagers-van Haselen, G.C., van Hagen, J.M., Govaerts, L.C.P., de Coo, I.F.M., de Zeeuw, C.I., Frens, M.A.

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Clinical Presentations of Patients with Polyol Abnormalities von Huck, J. H. J., Verhoeven, N. M., van Hagen, J. M., Jakobs, C., van der Knaap, M. S.

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome von Ghosh, SG, Becker, K, Huang, H, Dixon-Salazar, T, Chai, G, Salpietro, V, Al-Gazali, L, Waisfisz, Q, Wang, H, Vaux, KK, Stanley, V, Manole, A, Akpulat, U, Weiss, MM, Efthymiou, S, Hanna, MG, Minetti, C, Striano, P, Pisciotta, L, De Grandis, E, Altmueller, J, Nuernberg, P, Thiele, H, Yis, U, Okur, TD, Polat, AI, Amiri, N, Doosti, M, Karimani, EG, Toosi, MB, Haddad, G, Karakaya, M, Wirth, B, van Hagen, JM, Wolf, NI, Maroofian, R, Houlden, H, Cirak, S, Gleeson, JG

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Primary immunodeficiencies in the Netherlands: National patient data demonstrate the increased risk of malignancy von Jonkman-Berk, B.M, van den Berg, J.M, ten Berge, I.J.M, Bredius, R.G.M, Driessen, G.J, Dalm, V.A.S.H, van Dissel, J.T, van Deuren, M, Ellerbroek, P.M, van der Flier, M, van Hagen, P.M, van Montfrans, J.M, Rutgers, A, Schölvinck, E.H, de Vries, E, van Beem, R.T, Kuijpers, T.W

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Morbidly Obese Human Subjects Have Increased Peripheral Blood CD4+ T Cells With Skewing Toward a Treg- and Th2-Dominated Phenotype von DER WEERD, Kim Van, DIK, Willem A, DER LELIJ, Aart-Jan Van, STAAL, Frank J. T, HAGEN, P. Martin Van, SCHRIJVER, Benjamin, SCHWEITZER, Dave H, LANGERAK, Anton W, DREXHAGE, Hemmo A, KIEWIET, Rosalie M, AKEN, Maarten O. Van, HUISSTEDE, Astrid Van, DONGEN, Jacques J. M. Van

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Mild hyperthermia inhibits homologous recombination, induces BRCA2 degradation, and sensitizes cancer cells to poly (ADP-ribose) polymerase-1 inhibition von Krawczyk, Przemek M, Eppink, Berina, Essers, Jeroen, Stap, Jan, Rodermond, Hans, Odijk, Hanny, Zelensky, Alex, van Bree, Chris, Stalpers, Lukas J, Buist, Marrije R, Soullié, Thomas, Rens, Joost, Verhagen, Hence J.M, O'Connor, Mark J, Franken, Nicolaas A.P, ten Hagen, Timo L.M, Kanaar, Roland, Aten, Jacob A

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Human IgE+ B cells are derived from T cell–dependent and T cell–independent pathways von Berkowska, Magdalena A., PhD, Heeringa, Jorn J., MD, Hajdarbegovic, Enes, MD, van der Burg, Mirjam, PhD, Thio, H. Bing, MD, PhD, van Hagen, P. Martin, MD, PhD, Boon, Louis, PhD, Orfao, Alberto, MD, PhD, van Dongen, Jacques J.M., MD, PhD, van Zelm, Menno C., PhD

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Establishing reference values for age-related spermatogonial quantity in prepubertal human testes: a systematic review and meta-analysis von Masliukaite, Ieva, M.Sc, Hagen, Julie M., M.D, Jahnukainen, Kirsi, M.D., Ph.D, Stukenborg, Jan-Bernd, Ph.D, Repping, Sjoerd, Ph.D, van der Veen, Fulco, M.D., Ph.D, van Wely, Madelon, Ph.D, van Pelt, Ans M.M., Ph.D

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Shedding of klotho by ADAMs in the kidney von van Loon, Ellen P M, Pulskens, Wilco P, van der Hagen, Eline A E, Lavrijsen, Marla, Vervloet, Marc G, van Goor, Harry, Bindels, René J M, Hoenderop, Joost G J

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment von Haer-Wigman, Lonneke, van Zelst-Stams, Wendy Ag, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline Cw, Verheij, Joke Bgm, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel Jf, Kievit, Anneke J, Verhoeven, Virginie Jm, Pott, Jan Wr, Sallevelt, Suzanne Ceh, van Hagen, Johanna M, Plomp, Astrid S, Kroes, Hester Y, Lelieveld, Stefan H, Hehir-Kwa, Jayne Y, Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans Pm, Hoefsloot, Lies, Yntema, Helger G

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Immune dynamics in SARS-CoV-2 experienced immunosuppressed rheumatoid arthritis or multiple sclerosis patients vaccinated with mRNA-1273 von Verstegen, Niels JM, Hagen, Ruth R, van den Dijssel, Jet, Kuijper, Lisan H, Kreher, Christine, Ashhurst, Thomas, Kummer, Laura YL, Steenhuis, Maurice, Duurland, Mariel, de Jongh, Rivka, de Jong, Nina, van der Schoot, C Ellen, Bos, Amélie V, Mul, Erik, Kedzierska, Katherine, van Dam, Koos PJ, Stalman, Eileen W, Boekel, Laura, Wolbink, Gertjan, Tas, Sander W, Killestein, Joep, van Kempen, Zoé LE, Wieske, Luuk, Kuijpers, Taco W, Eftimov, Filip, Rispens, Theo, van Ham, S Marieke, ten Brinke, Anja, van de Sandt, Carolien E

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Parallel detection of SARS‐CoV‐2 epitopes reveals dynamic immunodominance profiles of CD8+ T memory cells in convalescent COVID‐19 donors von Dijssel, Jet, Hagen, Ruth R, Jongh, Rivka, Steenhuis, Maurice, Rispens, Theo, Geerdes, Dionne M, Mok, Juk Yee, Kragten, Angela HM, Duurland, Mariël C, Verstegen, Niels JM, Ham, S Marieke, Esch, Wim JE, Gisbergen, Klaas PJM, Hombrink, Pleun, Brinke, Anja, Sandt, Carolien E

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