Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Manon van Ginkel"'
Autor:
Eline A. Verberne, Shirley M. Lo‐A‐Njoe, Manon van Ginkel, Jet Zwolsman, Sylke Nikkels, Lauren Clement, Maartje de Vroomen, Maria L. G. Wever, Eric Arends, Hilda Holtsema, Petra J. Hajenius, Daphne Moreta, Ginette M. Ecury‐Goossen, Marcel M. A. M. Mannens, Hermien E. K. de Walle, Jorieke E. H. Bergman, Mieke M. van Haelst
Publikováno v:
Birth defects research. John Wiley and Sons Ltd
Birth defects research, 115(6), 595-604. John Wiley and Sons Ltd
Verberne, E A, Lo-A-Njoe, S M, van Ginkel, M, Zwolsman, J, Nikkels, S, Clement, L, de Vroomen, M, Wever, M L G, Arends, E, Holtsema, H, Hajenius, P J, Moreta, D, Ecury-Goossen, G M, Mannens, M M A M, de Walle, H E K, Bergman, J E H & van Haelst, M M 2023, ' Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao ', Birth defects research, vol. 115, no. 6, pp. 595-604 . https://doi.org/10.1002/bdr2.2153, https://doi.org/10.1002/bdr2.2153
Birth defects research, 115(6), 595-604. John Wiley and Sons Ltd
Verberne, E A, Lo-A-Njoe, S M, van Ginkel, M, Zwolsman, J, Nikkels, S, Clement, L, de Vroomen, M, Wever, M L G, Arends, E, Holtsema, H, Hajenius, P J, Moreta, D, Ecury-Goossen, G M, Mannens, M M A M, de Walle, H E K, Bergman, J E H & van Haelst, M M 2023, ' Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao ', Birth defects research, vol. 115, no. 6, pp. 595-604 . https://doi.org/10.1002/bdr2.2153, https://doi.org/10.1002/bdr2.2153
Background: Congenital anomalies represent an important global health issue. Data on the prevalence and pattern of congenital anomalies in the Caribbean region are scarce and lacking altogether in Aruba, Bonaire and Curaçao (ABC islands). Methods: W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0da354a8c2f480402eb96e4020ae7f05
https://doi.org/10.1002/bdr2.2153
https://doi.org/10.1002/bdr2.2153
Autor:
Ange Line Bruel, Katherine A. Bosanko, Abeltje M. Polstra, Agne Liedén, Marcel M.A.M. Mannens, R. Pfundt, Frédérick A. Mallette, Britt-Marie Anderlid, Kieran B. Pechter, Louise Rafael-Croes, Madhura Bakshi, Saskia M. Maas, Dagmar Glatz, R. Frank Kooy, Natalie Lippa, Philippe M. Campeau, Yuri A. Zarate, Jade England, Mieke M. van Haelst, Megan Boothe, Kosuke Izumi, Manon van Ginkel, Vimla Aggarwal, Anna Lehman, Eline A. Verberne, Zornitza Stark, Christopher M. Richmond, Marije Meuwissen, Darryl C. De Vivo, Pankaj B. Agrawal, Shuxiang Goh, Jennifer M. Lemons, Bertrand Isidor, Ayeshah Chaudhry, Causes Study, Emma Bedoukian, Nathaniel H. Robin, David A. Koolen, Sylvia Stockler, David Rodriguez-Buritica
Publikováno v:
Genetics in medicine
Genetics in Medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 2, pp. 374-383
Verberne, E A, Goh, S, England, J, van Ginkel, M, Rafael-Croes, L, Maas, S, Polstra, A, Zarate, Y A, Bosanko, K A, Pechter, K B, Bedoukian, E, Izumi, K, Chaudhry, A, Robin, N H, Boothe, M, Lippa, N C, Aggarwal, V, De Vivo, D C, Lehman, A, Study, C, Stockler, S, Bruel, A L, Isidor, B, Lemons, J, Rodriguez-Buritica, D F, Richmond, C M, Stark, Z, Agrawal, P B, Kooy, R F, Meuwissen, M E C, Koolen, D A, Pfundt, R, Lieden, A, Anderlid, B M, Glatz, D, Mannens, M M A M, Bakshi, M, Mallette, F A, van Haelst, M M & Campeau, P M 2021, ' JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome ', Genetics in Medicine, vol. 23, no. 2, pp. 374-383 . https://doi.org/10.1038/s41436-020-00992-z
Genetics in medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 374-383
Genetics in Medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 2, pp. 374-383
Verberne, E A, Goh, S, England, J, van Ginkel, M, Rafael-Croes, L, Maas, S, Polstra, A, Zarate, Y A, Bosanko, K A, Pechter, K B, Bedoukian, E, Izumi, K, Chaudhry, A, Robin, N H, Boothe, M, Lippa, N C, Aggarwal, V, De Vivo, D C, Lehman, A, Study, C, Stockler, S, Bruel, A L, Isidor, B, Lemons, J, Rodriguez-Buritica, D F, Richmond, C M, Stark, Z, Agrawal, P B, Kooy, R F, Meuwissen, M E C, Koolen, D A, Pfundt, R, Lieden, A, Anderlid, B M, Glatz, D, Mannens, M M A M, Bakshi, M, Mallette, F A, van Haelst, M M & Campeau, P M 2021, ' JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome ', Genetics in Medicine, vol. 23, no. 2, pp. 374-383 . https://doi.org/10.1038/s41436-020-00992-z
Genetics in medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 374-383
Item does not contain fulltext PURPOSE: JARID2, located on chromosome 6p22.3, is a regulator of histone methyltransferase complexes that is expressed in human neurons. So far, 13 individuals sharing clinical features including intellectual disability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1724e7c9470d5988fb6a5d2c3c686577
https://doi.org/10.1038/s41436-020-00992-z
https://doi.org/10.1038/s41436-020-00992-z