Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maria Ponson-Wever"'
Autor:
Maria Ponson-Wever, Ivo Peters, Bas C. Stunnenberg, Mieke M. van Haelst, Monique M. Gerrits, Eline A. Verberne, Charlotte A. Haaxma
Publikováno v:
Journal of Pediatric Neurology, 19(3):2000024, 189-192. Thieme Medical Publishers
Journal of Pediatric Neurology, 19, 03, pp. 189-192
Journal of Pediatric Neurology, 19(03), 189-192. IOS Press
Journal of Pediatric Neurology, 19(3):2000024, 189-192. Thieme Medical Publishers Inc.
Stunnenberg, B, Ponson-Wever, M, Verberne, E, Peters, I, Gerrits, M, Haaxma, C & Van Haelst, M 2021, ' Novel SCN9A Mutations in a Compound Heterozygous Girl with Congenital Insensitivity to Pain ', Journal of Pediatric Neurology, vol. 19, no. 3, 2000024, pp. 189-192 . https://doi.org/10.1055/s-0040-1714067
Journal of Pediatric Neurology, 19, 189-192
Journal of Pediatric Neurology, 19, 03, pp. 189-192
Journal of Pediatric Neurology, 19(03), 189-192. IOS Press
Journal of Pediatric Neurology, 19(3):2000024, 189-192. Thieme Medical Publishers Inc.
Stunnenberg, B, Ponson-Wever, M, Verberne, E, Peters, I, Gerrits, M, Haaxma, C & Van Haelst, M 2021, ' Novel SCN9A Mutations in a Compound Heterozygous Girl with Congenital Insensitivity to Pain ', Journal of Pediatric Neurology, vol. 19, no. 3, 2000024, pp. 189-192 . https://doi.org/10.1055/s-0040-1714067
Journal of Pediatric Neurology, 19, 189-192
Congenital Insensitivity to Pain (CIP) is a rare disorder that is characterized by the inability to perceive pain. It is caused by bi-allelic inactivating mutations in the SCN9A gene, which encodes the pore-forming α-subunit of the nerve voltage-gat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad80aabc5eb3d0811b83b79a5e4a54a4
https://doi.org/10.1055/s-0040-1714067
https://doi.org/10.1055/s-0040-1714067
Autor:
Eline A. Verberne, Jonne M. Westermann, Tamar I. Vries, Ginette M. Ecury‐Goossen, Shirley M. Lo‐A‐Njoe, Meindert E. Manshande, Sonja Faries, Hans D. Veenhuis, Patricia Philippi, Farah A. Falix, Irsa Rosina‐Angelista, Maria Ponson‐Wever, Louise Rafael‐Croes, Patricia Thorsen, Eric Arends, Maartje Vroomen, Sietse Q. Nagelkerke, Martijn Tilanus, Lars T. Veken, Karin Huijsdens‐van Amsterdam, Anne‐Marie Kevie‐Kersemaekers, Mariëlle Alders, Marcel M. A. M. Mannens, Mieke M. Haelst
Publikováno v:
American Journal of Medical Genetics Part A, 188(6), 1777-1791. Wiley-Liss Inc.
American journal of medical genetics. Part A, 188(6), 1777-1791. Wiley-Liss Inc.
Verberne, E A, Westermann, J M, de Vries, T I, Ecury-Goossen, G M, Lo-A-Njoe, S M, Manshande, M E, Faries, S, Veenhuis, H D, Philippi, P, Falix, F A, Rosina-Angelista, I, Ponson-Wever, M, Rafael-Croes, L, Thorsen, P, Arends, E, de Vroomen, M, Nagelkerke, S Q, Tilanus, M, van der Veken, L T, Huijsdens-van Amsterdam, K, van der Kevie-Kersemaekers, A-M, Alders, M, Mannens, M M A M & van Haelst, M M 2022, ' Genetic care in geographically isolated small island communities : 8 years of experience in the Dutch Caribbean ', American Journal of Medical Genetics Part A, vol. 188, no. 6, pp. 1777-1791 . https://doi.org/10.1002/ajmg.a.62708
American journal of medical genetics. Part A, 188(6), 1777-1791. Wiley-Liss Inc.
Verberne, E A, Westermann, J M, de Vries, T I, Ecury-Goossen, G M, Lo-A-Njoe, S M, Manshande, M E, Faries, S, Veenhuis, H D, Philippi, P, Falix, F A, Rosina-Angelista, I, Ponson-Wever, M, Rafael-Croes, L, Thorsen, P, Arends, E, de Vroomen, M, Nagelkerke, S Q, Tilanus, M, van der Veken, L T, Huijsdens-van Amsterdam, K, van der Kevie-Kersemaekers, A-M, Alders, M, Mannens, M M A M & van Haelst, M M 2022, ' Genetic care in geographically isolated small island communities : 8 years of experience in the Dutch Caribbean ', American Journal of Medical Genetics Part A, vol. 188, no. 6, pp. 1777-1791 . https://doi.org/10.1002/ajmg.a.62708
Worldwide, there are large inequalities in genetic service delivery. In 2011, we established a bi-annual joint pediatric-genetics clinic with a visiting clinical geneticist in the Dutch Caribbean. This retrospective study evaluates the yield of diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3113ee3583a01686e46a6357e683726c
https://pubmed.ncbi.nlm.nih.gov/35253369
https://pubmed.ncbi.nlm.nih.gov/35253369
Autor:
Maria Ponson-Wever, Lidewij Henneman, Meindert E. Manshande, Ginette M. Ecury-Goossen, Mieke M. van Haelst, Marcel M.A.M. Mannens, Eline A. Verberne, Martijn Tilanus, Maartje de Vroomen
Publikováno v:
Verberne, E A, Ecury-Goossen, G M, Manshande, M E, Ponson-Wever, M, de Vroomen, M, Tilanus, M, Mannens, M M A M, Henneman, L & van Haelst, M M 2021, ' Clinical and community genetics services in the Dutch Caribbean ', Journal of Community Genetics, vol. 12, no. 3, pp. 497-501 . https://doi.org/10.1007/s12687-021-00515-6, https://doi.org/10.1007/s12687-021-00515-6
Journal of Community Genetics
Journal of Community Genetics, 12(3), 497-501. Springer Verlag
Journal of community genetics, 12(3), 497-501. Springer Verlag
Journal of Community Genetics
Journal of Community Genetics, 12(3), 497-501. Springer Verlag
Journal of community genetics, 12(3), 497-501. Springer Verlag
The Caribbean part of the Kingdom of the Netherlands consists of six islands: Aruba, Bonaire, Curaçao, St. Maarten, St. Eustatius, and Saba. Because of their small size and relative remoteness, they face several economic and healthcare challenges, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdead96b8491eb891a37246f61bb5782
https://research.vumc.nl/en/publications/48ed84af-2ba5-4a0d-8d29-e536484feaa0
https://research.vumc.nl/en/publications/48ed84af-2ba5-4a0d-8d29-e536484feaa0
