Mieke M. Van Haelst
AuthID: R-00G-JKR
1
TITLE: BASIC RESEARCHBIALLELIC BUB1 MUTATIONS CAUSE MICROCEPHALY, DEVELOPMENTAL DELAY AND VARIABLE EFFECTS ON COHESION AND CHROMOSOME SEGREGATION Full Text
AUTHORS: Carvalhal, Sara; Bader, Ingrid; Rooimans, Martin A.; Oostra, Anneke B.; Balk, Jesper A.; Feichtinger, Rene G.; Beichler, Christine; Speicher, Michael R.; van Hagen, Johanna M.; Waisfisz, Quinten; van Haelst, Mieke; Bruijn, Martijn; Mayr, Johannes A.; Wolthuis, Rob M. F.; Oliveira, Raquel A.; de Lange, Job;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Carvalhal, Sara; Bader, Ingrid; Rooimans, Martin A.; Oostra, Anneke B.; Balk, Jesper A.; Feichtinger, Rene G.; Beichler, Christine; Speicher, Michael R.; van Hagen, Johanna M.; Waisfisz, Quinten; van Haelst, Mieke; Bruijn, Martijn; Mayr, Johannes A.; Wolthuis, Rob M. F.; Oliveira, Raquel A.; de Lange, Job;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
2
TITLE: Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals Full Text
AUTHORS: Schmetz, Ariane; Luedecke, Hermann Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme Pichon, Anne Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung Chien; Hustinx, Alexander; Kleinendorst, Lotte; ...More
PUBLISHED: 2023, SOURCE: HUMAN GENETICS
AUTHORS: Schmetz, Ariane; Luedecke, Hermann Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme Pichon, Anne Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung Chien; Hustinx, Alexander; Kleinendorst, Lotte; ...More
PUBLISHED: 2023, SOURCE: HUMAN GENETICS
INDEXED IN: Scopus WOS
3
TITLE: Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
AUTHORS: Charlotte W Ockeloen; Marjolein H Willemsen; Sonja de Munnik; Bregje W M van Bon; Nicole de Leeuw; Aad Verrips; Sarina G Kant; Elizabeth A Jones; Han G Brunner; Rosa L E van Loon; Eric E J Smeets; Mieke M van Haelst; Gijs van Haaften; Ann Nordgren; Helena Malmgren; Giedre Grigelioniene; Sascha Vermeer; Pedro Louro ; Lina Ramos; Thomas J J Maal; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
AUTHORS: Charlotte W Ockeloen; Marjolein H Willemsen; Sonja de Munnik; Bregje W M van Bon; Nicole de Leeuw; Aad Verrips; Sarina G Kant; Elizabeth A Jones; Han G Brunner; Rosa L E van Loon; Eric E J Smeets; Mieke M van Haelst; Gijs van Haaften; Ann Nordgren; Helena Malmgren; Giedre Grigelioniene; Sascha Vermeer; Pedro Louro ; Lina Ramos; Thomas J J Maal; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9