Connie T. R. M. Schrander Stumpel
AuthID: R-00G-Q06
1
TITLE: Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
AUTHORS: Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
AUTHORS: Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Evaluation of the most commonly used (semi-)quantitative parameters of 18F-FDG PET/CT to detect malignant transformation of neurofibromas in neurofibromatosis type 1
AUTHORS: Brinkman, M; Jentjens, S; Boone, K; Anten, M; Stumpel, CTRM; Nelemans, PJ; van Kroonenburgh, MJPG;
PUBLISHED: 2018, SOURCE: Nuclear medicine communications, VOLUME: 39, ISSUE: 11
AUTHORS: Brinkman, M; Jentjens, S; Boone, K; Anten, M; Stumpel, CTRM; Nelemans, PJ; van Kroonenburgh, MJPG;
PUBLISHED: 2018, SOURCE: Nuclear medicine communications, VOLUME: 39, ISSUE: 11
INDEXED IN: Scopus
Scopus3
TITLE: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
AUTHORS: Yvonne J Vos; Hermien E K de Walle; Krista K Bos; Jenneke A Stegeman; Annelies M ten Berge; Martijn Bruining; Merel C van Maarle; Mariet W Elting; Nicolette S den Hollander; Ben Hamel; Ana Maria Fortuna; Lone E M Sunde; Irene Stolte Dijkstra; Connie T R M Schrander Stumpel; Robert M W Hofstra;
PUBLISHED: 2010, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 47, ISSUE: 3
AUTHORS: Yvonne J Vos; Hermien E K de Walle; Krista K Bos; Jenneke A Stegeman; Annelies M ten Berge; Martijn Bruining; Merel C van Maarle; Mariet W Elting; Nicolette S den Hollander; Ben Hamel; Ana Maria Fortuna; Lone E M Sunde; Irene Stolte Dijkstra; Connie T R M Schrander Stumpel; Robert M W Hofstra;
PUBLISHED: 2010, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 47, ISSUE: 3
4
TITLE: Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect Full Text
AUTHORS: Bram Perdu; Fenna de Freitas; Suzanne G M Frints; Meyke Schouten; Connie Schrander Stumpel; Mafalda Barbosa; Jorge Pinto Basto; Margarida Reis Lima; Marie Christine de Vernejoul; Kristin Becker; Marie Louise Freckmann; Kathlijn Keymolen; Eric Haan; Ravi Savarirayan; Rainer Koenig; Bernhard Zabel; Filip M Vanhoenacker; Wim Van Hul;
PUBLISHED: 2010, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 25, ISSUE: 1
AUTHORS: Bram Perdu; Fenna de Freitas; Suzanne G M Frints; Meyke Schouten; Connie Schrander Stumpel; Mafalda Barbosa; Jorge Pinto Basto; Margarida Reis Lima; Marie Christine de Vernejoul; Kristin Becker; Marie Louise Freckmann; Kathlijn Keymolen; Eric Haan; Ravi Savarirayan; Rainer Koenig; Bernhard Zabel; Filip M Vanhoenacker; Wim Van Hul;
PUBLISHED: 2010, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 25, ISSUE: 1
