Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape

por Holtkamp, Kim C.A., Vos, Evelien M., Rigter, Tessel, Lakeman, Phillis, Henneman, Lidewij, Cornel, Martina C.
Publicado 2017

Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

por Holtkamp, Kim C. A., Henneman, Lidewij, Gille, Johan J. P., Meijers-Heijboer, Hanne, Cornel, Martina C., Lakeman, Phillis
Publicado 2018

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 2016

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 2017

Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study

por Holtkamp, Kim C. A., Lakeman, Phillis, Hader, Hind, Jans, Suze M. J. P., Hoenderdos, Maria, Playfair, Henna A. M., Cornel, Martina C., Peters, Marjolein, Henneman, Lidewij
Publicado 2017

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

por Sperb-Ludwig, F., Alegra, T., Velho, R.V., Ludwig, N., Kim, C.A., Kok, F., Kitajima, J.P., van Meel, E., Kornfeld, S., Burin, M.G., Schwartz, I.V.D.
Publicado 2014

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

por Ceroni, J. R. M., Dutra, R. L., Honjo, R. S., Llerena, J. C., Acosta, A. X., Medeiros, P. F. V., Galera, M. F., Zanardo, É. A., Piazzon, F. B., Dias, A. T., Novo-Filho, G. M., Montenegro, M. M., Madia, F. A. R., Bertola, D. R., de Melo, J. B., Kulikowski, L. D., Kim, C. A.
Publicado 2018