Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy
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
Published in Journal of acquired immune deficiency syndromes (1999) (01.12.2016)
Published in Journal of acquired immune deficiency syndromes (1999) (01.12.2016)
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Journal Article
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification
Kamps, Rick, Brandão, Rita D, Bosch, Bianca J van den, Paulussen, Aimee D C, Xanthoulea, Sofia, Blok, Marinus J, Romano, Andrea
Published in International journal of molecular sciences (31.01.2017)
Published in International journal of molecular sciences (31.01.2017)
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Journal Article
New mutations and an updated database for the patched‐1 (PTCH1) gene
Reinders, Marie G., Hout, Antonius F., Cosgun, Betûl, Paulussen, Aimée D., Leter, Edward M., Steijlen, Peter M., Mosterd, Klara, Geel, Michel, Gille, Johan J.
Published in Molecular genetics & genomic medicine (01.05.2018)
Published in Molecular genetics & genomic medicine (01.05.2018)
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Journal Article
Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro
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.
Published in Genetics in medicine (01.11.2014)
Published in Genetics in medicine (01.11.2014)
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Journal Article
Consanguineous couples' experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process
van der Hout, Sanne, Woudstra, Anke J, Dondorp, Wybo, Sallevelt, Suzanne, de Die-Smulders, Christine, Paulussen, Aimee D C, de Wert, Guido
Published in European journal of human genetics : EJHG (01.11.2023)
Published in European journal of human genetics : EJHG (01.11.2023)
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Journal Article
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
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.
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Journal Article
Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience
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
Published in European journal of human genetics : EJHG (01.08.2023)
Published in European journal of human genetics : EJHG (01.08.2023)
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New insights into minor splicing - A transcriptomic analysis of cells derived from TALS patients
Cologne, Audric, Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Campan-Fournier, Amandine, Bober, Michael B, de Die-Smulders, Christine Em, Paulussen, Aimee Dc, Pinson, Lucile, Toutain, Annick, Roifman, Chaim M, Leutenegger, Anne-Louise, Mazoyer, Sylvie, Edery, Patrick, Lacroix, Vincent
Published in RNA (Cambridge) (01.09.2019)
Published in RNA (Cambridge) (01.09.2019)
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Journal Article
A Novel Mutation (T65P) in the PAS Domain of the Human Potassium Channel HERG Results in the Long QT Syndrome by Trafficking Deficiency
Paulussen, Aimée, Raes, Adam, Matthijs, Gert, Snyders, Dirk J, Cohen, Nadine, Aerssens, Jeroen
Published in The Journal of biological chemistry (13.12.2002)
Published in The Journal of biological chemistry (13.12.2002)
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Journal Article
Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV
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
Published in PloS one (12.01.2018)
Published in PloS one (12.01.2018)
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Journal Article
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing
van Dijk, Wanwisa, Derks, Kasper, Drüsedau, Marion, Meekels, Jeroen, Koeck, Rebekka, Essers, Rick, Dreesen, Joseph, Coonen, Edith, de Die-Smulders, Christine, Stevens, Servi J C, Brunner, Han G, van den Wijngaard, Arthur, Paulussen, Aimée D C, Zamani Esteki, Masoud
Published in Human reproduction (Oxford) (31.10.2022)
Published in Human reproduction (Oxford) (31.10.2022)
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Journal Article
Liquid biopsy: state of reproductive medicine and beyond
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
Published in Human reproduction (Oxford) (01.11.2021)
Published in Human reproduction (Oxford) (01.11.2021)
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Journal Article
Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma
Brinkhuizen, Tjinta, MD, Reinders, Marie G., MD, van Geel, Michel, MD, PhD, Hendriksen, Annelot J.L., MD, Paulussen, Aimée D.C., MD, PhD, Winnepenninckx, Véronique J., MD, PhD, Keymeulen, Kristien B., MD, PhD, Soetekouw, Patricia M.M.B., MD, PhD, van Steensel, Maurice A.M., MD, PhD, Mosterd, Klara, MD, PhD
Published in Journal of the American Academy of Dermatology (01.11.2014)
Published in Journal of the American Academy of Dermatology (01.11.2014)
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Genome sequencing as a generic diagnostic strategy for rare disease
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
Published in Genome medicine (14.02.2024)
Published in Genome medicine (14.02.2024)
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Journal Article
Mutation-specific effects in germline transmission of pathogenic mtDNA variants
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
Published in Human reproduction (Oxford) (01.07.2018)
Published in Human reproduction (Oxford) (01.07.2018)
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Journal Article
Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease
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
Published in Clinical genetics (01.02.2022)
Published in Clinical genetics (01.02.2022)
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Journal Article
Preimplantation Genetic Testing for Monogenic Kidney Disease
Snoek, Rozemarijn, Stokman, Marijn F, Lichtenbelt, Klaske D, van Tilborg, Theodora C, Simcox, Cindy E, Paulussen, Aimée D C, Dreesen, Jos C M F, van Reekum, Franka, Lely, A Titia, Knoers, Nine V A M, de Die-Smulders, Christine E M, van Eerde, Albertien M
Published in Clinical journal of the American Society of Nephrology (07.09.2020)
Published in Clinical journal of the American Society of Nephrology (07.09.2020)
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