Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience von Vernimmen, Vivian, Paulussen, Aimée D C, Dreesen, Jos C F M, van Golde, Ron J, Zamani Esteki, Masoud, Coonen, Edith, van Buul-van Zwet, Marianne L, Homminga, Irene, Derijck, Alwin A H A, Brandts, Lloyd, Stumpel, Constance T R M, de Die-Smulders, Christine E M

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Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV von Peltenburg, N Chantal, Bierau, Jörgen, Bakker, Jaap A, Schippers, Jolanda A, Lowe, Selwyn H, Paulussen, Aimée D C, van den Bosch, Bianca J C, Leers, Mathie P G, Hansen, Bettina E, Verbon, Annelies

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MLL2 mutation spectrum in 45 patients with Kabuki syndrome von Paulussen, Aimée D.C, Stegmann, Alexander P.A, Blok, Marinus J, Tserpelis, Demis, Posma-Velter, Crool, Detisch, Yvonne, Smeets, Eric E.J.G.L, Wagemans, Annemieke, Schrander, Jaap J.P, van den Boogaard, Marie-José H, van der Smagt, Jasper, van Haeringen, Arie, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Mancini, Grazia M, Wessels, Marja W, Hennekam, Raoul C.M, Vreeburg, Maaike, Geraedts, Joep, de Ravel, Thomy, Fryns, Jean-Pierre, Smeets, Hubert J, Devriendt, Koenraad, Schrander-Stumpel, Constance T.R.M

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Consanguineous couples' experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process von van der Hout, Sanne, Woudstra, Anke J, Dondorp, Wybo, Sallevelt, Suzanne, de Die-Smulders, Christine, Paulussen, Aimee D C, de Wert, Guido

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Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro von Natesan, Senthilkumar A., Bladon, Alex J., Coskun, Serdar, Qubbaj, Wafa, Prates, Renata, Munne, Santiago, Coonen, Edith, Dreesen, Joseph C.F.M., Stevens, Servi J.C., Paulussen, Aimee D.C., Stock-Myer, Sharyn E., Wilton, Leeanda J., Jaroudi, Souraya, Wells, Dagan, Brown, Anthony P.C., Handyside, Alan H.

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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice von Sallevelt, Suzanne C.E.H., Stegmann, Alexander P.A., de Koning, Bart, Velter, Crool, Steyls, Anja, van Esch, Melanie, Lakeman, Phillis, Yntema, Helger, Esteki, Masoud Zamani, de Die-Smulders, Christine E.M., Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G., Paulussen, Aimée D.C.

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Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing von Janssen, Anouk E. J., Koeck, Rebekka M., Essers, Rick, Cao, Ping, van Dijk, Wanwisa, Drüsedau, Marion, Meekels, Jeroen, Yaldiz, Burcu, van de Vorst, Maartje, de Koning, Bart, Hellebrekers, Debby M. E. I., Stevens, Servi J. C., Sun, Su Ming, Heijligers, Malou, de Munnik, Sonja A., van Uum, Chris M. J., Achten, Jelle, Hamers, Lars, Naghdi, Marjan, Vissers, Lisenka E. L. M., van Golde, Ron J. T., de Wert, Guido, Dreesen, Jos C. F. M., de Die-Smulders, Christine, Coonen, Edith, Brunner, Han G., van den Wijngaard, Arthur, Paulussen, Aimee D. C., Zamani Esteki, Masoud

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Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification von Kamps, Rick, Brandão, Rita D, Bosch, Bianca J van den, Paulussen, Aimee D C, Xanthoulea, Sofia, Blok, Marinus J, Romano, Andrea

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Genome sequencing as a generic diagnostic strategy for rare disease von Schobers, Gaby, Derks, Ronny, den Ouden, Amber, Swinkels, Hilde, van Reeuwijk, Jeroen, Bosgoed, Ermanno, Lugtenberg, Dorien, Sun, Su Ming, Corominas Galbany, Jordi, Weiss, Marjan, Blok, Marinus J, Olde Keizer, Richelle A C M, Hofste, Tom, Hellebrekers, Debby, de Leeuw, Nicole, Stegmann, Alexander, Kamsteeg, Erik-Jan, Paulussen, Aimee D C, Ligtenberg, Marjolijn J L, Bradley, Xiangqun Zheng, Peden, John, Gutierrez, Alejandra, Pullen, Adam, Payne, Tom, Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G, Nelen, Marcel, Yntema, Helger G, Vissers, Lisenka E L M

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Erythrocyte inosine triphosphatase activity is decreased in HIV-seropositive individuals von Bierau, Jörgen, Bakker, Jaap A, Schippers, Jolanda A, Grashorn, Janine A C, Lindhout, Martijn, Lowe, Selwyn H, Paulussen, Aimée D C, Verbon, Annelies

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Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease von Vincenten, Sanne C. C., Van Der Stoep, Nienke, Paulussen, Aimée D. C., Mul, Karlien, Badrising, Umesh A., Kriek, Marjolein, Van Der Heijden, Olivier W. H., Van Engelen, Baziel G. M., Voermans, Nicol C., De Die‐Smulders, Christine E. M., Lassche, Saskia

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Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers von Claes, Godelieve R F, van Tienen, Florence H J, Lindsey, Patrick, Krapels, Ingrid P C, Helderman-van den Enden, Apollonia T J M, Hoos, Marije B, Barrois, Yvette E G, Janssen, Johanna W H, Paulussen, Aimée D C, Sels, Jan-Willem E M, Kuijpers, Simone H H, van Tintelen, J Peter, van den Berg, Maarten P, Heesen, Wilfred F, Garcia-Pavia, Pablo, Perrot, Andreas, Christiaans, Imke, Salemink, Simone, Marcelis, Carlo L M, Smeets, Hubert J M, Brunner, Han G, Volders, Paul G A, van den Wijngaard, Arthur

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Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications von Kremer Hovinga, Idske C.L., Giltay, Jacques C., Crabben, Saskia N., Steyls, Anja, Kamp, Hetty J., Paulussen, Aimee D.C.

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Rare novel variants in the ZIC3 gene cause X-linked heterotaxy von Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence Hj, Krapels, Ingrid P C, Claes, Godelieve Rf, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M, Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G, Smeets, Hubert J M, Bakkers, Jeroen, van den Wijngaard, Arthur

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Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome von Roemen, Guido M J M, Theunissen, Tom E J, Hoezen, Ward W J, Steyls, Anja R M, Paulussen, Aimee D C, Mosterd, Klara, Rahikkala, Elisa, Zur Hausen, Axel, Speel, Ernst Jan M, van Geel, Michel

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Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination von Mersy, Elke, Faas, Brigitte H W, Spierts, Sabine, Houben, Leonie M H, Macville, Merryn V E, Frints, Suzanna G M, Paulussen, Aimee D C, Veltman, Joris A

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Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis von MOONEN, Rob M. J, PAULUSSEN, Aimee D. C, SOUREN, Nicole Y. P, KESSELS, Alfons G. H, RUBIO-GOZALBO, M. Estela, VILLAMOR, Eduardo

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Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy von Peltenburg, N Chantal, Leers, Mathie P G, Bakker, Jaap A, Lowe, Selwyn H, Vroemen, Wim H M, Paulussen, Aimée D C, van den Bosch, Bianca J C, Bierau, Jörgen, Verbon, Annelies

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Mutation-specific effects in germline transmission of pathogenic mtDNA variants von Otten, Auke B C, Sallevelt, Suzanne C E H, Carling, Phillippa J, Dreesen, Joseph C F M, Drüsedau, Marion, Spierts, Sabine, Paulussen, Aimee D C, de Die-Smulders, Christine E M, Herbert, Mary, Chinnery, Patrick F, Samuels, David C, Lindsey, Patrick, Smeets, Hubert J M

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Liquid biopsy: state of reproductive medicine and beyond von Schobers, Gaby, Koeck, Rebekka, Pellaers, Dominique, Stevens, Servi J C, Macville, Merryn V E, Paulussen, Aimée D C, Coonen, Edith, van den Wijngaard, Arthur, de Die-Smulders, Christine, de Wert, Guido, Brunner, Han G, Zamani Esteki, Masoud

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