Glycogen Storage Disease Type II : Birth Prevalence Agrees with Predicted Genotype Frequency

Autor: Ausems, M.G.E.M., Berg, K. ten, Kroos, M.A., van Diggelen, O.P., Wevers, R.A., Poorthuis, B.J.H.M., Niezen-Koning, K.E., van der Ploeg, A.T., Beemer, F.A., Reuser, A.J.J., Sandkuijl, L.A., Wokke, J.H.J.

Publikováno v: Community Genetics, 1999 Jan 01. 2(2/3), 91-96.

Externí odkaz: https://www.jstor.org/stable/26664451

Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18

Autor: de Pater, J.M., Poot, M. ^*, Beemer, F.A., Bijlsma, J.B., Hack, W.W.M., Van Dam, W.M., Eleveld, M.J., Loneus, W.H., Engelen, J.J.M.

Publikováno v: In European Journal of Medical Genetics 2006 49(1):19-27

Journal of Genetic Counseling: counselees’ post-visit satisfaction, cognitions, anxiety, and needs fulfillment

Autor: Pieterse, A.H., Dulmen, A.M. van, Beemer, F.A., Bensing, J., Ausems, M.G.E.M.

Publikováno v: Journal of Genetic Counseling, 16(1), 85. Springer

Little is known about the relation between communication during cancer genetic counseling and outcome. We assessed associations between counselor-counselee communication and counselee satisfaction, cognitions, anxiety, and fulfillment of major needs,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a71aa70a604881c65c99bc524265a0c5
https://dspace.library.uu.nl/handle/1874/22007

Initial cancer genetic counseling consultation: change in counselees’ cognitions and anxiety, and association with addressing their needs and preferences

Autor: Pieterse, A.H., Ausems, M.G.E.M., Dulmen, A.M. van, Beemer, F.A., Bensing, J.

Publikováno v: American Journal of Medical Genetics, 137(1), 27. Wiley

The fulfillment of counselees’ expectations in cancer genetic counseling and how this affects the outcome of counseling have received little attention so far. This study investigates how the initial consultation influences counselees’ cognitions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::72dab815405396602ae0b11cce9cb4e7
https://dspace.library.uu.nl/handle/1874/21955

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Autor: Navarro, C.L., Sandre-Giovannoli, A., Bernard, R., Boccaccio, I., Genevieve, D., Hadj-Rabia, S., Gaudy-Marqueste, C., Smitt, H.S., Vabres, P., Faivre, L., Verloes, A., van Essen, Ton, Flori, E., Hennekam, R., Beemer, F.A., Laurent, N., Le Merrer, M., Cau, P., Levy, N., Boccaccio, [No Value], Boyer, Amandine

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2004, 13 (20), pp.2493-2503. ⟨10.1093/hmg/ddh265⟩
Human Molecular Genetics, Oxford University Press (OUP), 2004, 13 (20), pp.2493-2503. 〈10.1093/hmg/ddh265〉
Human molecular genetics, 13(20), 2493-2503. Oxford University Press
Human Molecular Genetics, 2004, 13 (20), pp.2493-2503. ⟨10.1093/hmg/ddh265⟩
Human Molecular Genetics, 13(20), 2493-2503. Oxford University Press

International audience; Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e4e167d00fd4bf81eb733cdbd5c1e6b
https://hal-amu.archives-ouvertes.fr/hal-01668977/document