Follow up after a family based genetic screening programme for familial hypercholesterolaemia: is screening alone enough?

Por van Maarle, Merel C, Stouthard, Marlies E A, de Mheen, Perla J Marang-van, Klazinga, Niek S, Bonsel, Gouke J
Publicado em 2002

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?

Por Holtkamp, Kim C A, van Maarle, Merel C, Schouten, Maria J E, Dondorp, Wybo J, Lakeman, Phillis, Henneman, Lidewij
Publicado no Eur J Hum Genet (2016)

Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

Por Bouman, Arjan, Alders, Mariëlle, Oostra, Roelof Jan, van Leeuwen, Elisabeth, Thuijs, Nikki, van der Kevie‐Kersemaekers, Anne‐Marie, van Maarle, Merel
Publicado no Am J Med Genet A (2017)

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives

Por Holtkamp, Kim C.A., Mathijssen, Inge B., Lakeman, Phillis, van Maarle, Merel C., Dondorp, Wybo J., Henneman, Lidewij, Cornel, Martina C.
Publicado no Eur J Public Health (2017)

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

Por van Dijk, Tessa, van Ruissen, Fred, Jaeger, Bregje, Rodenburg, Richard J., Tamminga, Saskia, van Maarle, Merel, Baas, Frank, Wolf, Nicole I., Poll-The, Bwee Tien
Publicado no JIMD Rep (2016)

With expanded carrier screening, founder populations run the risk of being overlooked

Por Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne
Publicado no J Community Genet (2017)

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives

Por van Schendel, Rachèl V., Page‐Christiaens, G. C. (Lieve), Beulen, Lean, Bilardo, Catia M., de Boer, Marjon A., Coumans, Audrey B. C., Faas, Brigitte H., van Langen, Irene M., Lichtenbelt, Klaske D., van Maarle, Merel C., Macville, Merryn V. E., Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij
Publicado no Prenat Diagn (2016)

Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results

Por van Schendel, Rachèl V., Page-Christiaens, G. C. M. Lieve, Beulen, Lean, Bilardo, Caterina M., de Boer, Marjon A., Coumans, Audrey B. C., Faas, Brigitte H. W., van Langen, Irene M., Lichtenbelt, Klaske D., van Maarle, Merel C., Macville, Merryn V. E., Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij
Publicado no J Genet Couns (2017)

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

Por Nizon, Mathilde, Huber, Céline, De Leonardis, Fabio, Merrina, Rodolphe, Forlino, Antonella, Fradin, Mélanie, Tuysuz, Beyhan, Abu-Libdeh, Bassam Y, Alanay, Yasemin, Albrecht, Beate, Al-Gazali, Lihadh, Basaran, Sarenur Yilmaz, Clayton-Smith, Jill, Désir, Julie, Gill, Harinder, Greally, Marie T, Koparir, Erkan, van Maarle, Merel C, MacKay, Sara, Mortier, Geert, Morton, Jenny, Sillence, David, Vilain, Catheline, Young, Ian, Zerres, Klaus, Le Merrer, Martine, Munnich, Arnold, Le Goff, Carine, Rossi, Antonio, Cormier-Daire, Valérie
Publicado em 2012

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Por Paulussen, Aimée DC, Schrander-Stumpel, Constance T, Tserpelis, Demis C J, Spee, Matteus K M, Stegmann, Alexander P A, Mancini, Grazia M, Brooks, Alice S, Collée, Margriet, Maat-Kievit, Anneke, Simon, Marleen E H, van Bever, Yolande, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Herkert, Johanna C, van Essen, Anthonie J, Lichtenbelt, Klaske D, van Haeringen, Arie, Kwee, Mei L, Lachmeijer, Augusta M A, Tan-Sindhunata, Gita M B, van Maarle, Merel C, Arens, Yvonne H J M, Smeets, Eric E J G L, de Die-Smulders, Christine E, Engelen, John J M, Smeets, Hubertus J, Herbergs, Jos
Publicado em 2010

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Por Schmidts, Miriam, Arts, Heleen H, Bongers, Ernie M H F, Yap, Zhimin, Oud, Machteld M, Antony, Dinu, Duijkers, Lonneke, Emes, Richard D, Stalker, Jim, Yntema, Jan-Bart L, Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A, Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elçioğlu, Nursel, van Maarle, Merel C, Graul-Neumann, Luitgard M, Devriendt, Koenraad, Smithson, Sarah F, Wellesley, Diana, Verbeek, Nienke E, Hennekam, Raoul C M, Kayserili, Hulya, Scambler, Peter J, Beales, Philip L, Knoers, Nine VAM, Roepman, Ronald, Mitchison, Hannah M
Publicado em 2013