المؤلفون: Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François-Guillaume, Destree, Anne, Devriendt, Koenraad, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie-Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, Abramowicz, Marc

المساهمون: UCL - (SLuc) Service de neurologie pédiatrique, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de référence en lésions congénitales de la moëlle épinière, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire

المصدر: Molecular genetics & genomic medicine, Vol. 9, no. 9, p. e1768 [1-19] (2021)

مصطلحات موضوعية: Cell Cycle Proteins, Child, Consanguinity, Epilepsy, Female, Gene Frequency, Genetic Heterogeneity, Genotype, Humans, Incidence, Male, Microcephaly, Nerve Tissue Proteins, Phenotype, Mendeliome, brain developmental disorders, primary microcephaly, rare disease

العلاقة: boreal:261621; http://hdl.handle.net/2078.1/261621Test; info:pmid/34402213; urn:EISSN:2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.1768Test
http://hdl.handle.net/2078.1/261621Test

المؤلفون: Badoer, Cindy, Guevellou, Virginie Guibert Le, Delnatte, Capucine, Del-Favero, Jurgen, Capoluongo, Ettore, Bézieau, Stéphane, Garrec, Céline, Goossens, Dirk, Ellison, Gillian, Mills, John, Dzial, Mélina, El Housni, Hakim, Berwouts, Sarah, Concolino, Paola

المصدر: Oncotarget, 7 (49

مصطلحات موضوعية: Psychiatrie, BRCA1-BRCA2, Fresh frozen tumors, Next generation sequencing, Olaparib, Ovarian carcinoma

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.18632/oncotarget.12877; uri/info:scp/85000981913; https://dipot.ulb.ac.be/dspace/bitstream/2013/242971/3/doi_226598.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/242971Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/242971Test

المؤلفون: Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François-Guillaume, Destree, Anne, Devriendt, Koen, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Matthijs, Gert, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie-Cécile, Sekhara, Tayeb, Coster, Rudy van, Ende, Jenneke Van den, Aa, Nathalie Van der, Esch, Hilde Van, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, PASSEMARD, Sandrine, verloes, alain, Aeby, Alec, Deconinck, Nicolas, Bogaert, Patrick Van, Pirson, Isabelle, Abramowicz, Marc

الإتاحة: https://doi.org/10.22541/au.160978661.19941555/v1Test

المؤلفون: Duerinckx, Sarah, Jacquemin, Valérie, Drunat, Séverine, Vial, Yoann, Passemard, Sandrine, Perazzolo, Camille, Massart, Annick, Soblet, Julie, Racapé, Judith, Desmyter, Laurence, Badoer, Cindy, Papadimitriou, Sofia, Le Borgne, Yann-Aël, Lefort, Anne, Libert, Frédérick, De Maertelaer, Viviane, Rooman, Marianne, Costagliola, Sabine, Verloes, Alain, Lenaerts, Tom, Pirson, Isabelle, Abramowicz, Marc

المصدر: Human mutation, 41 (2

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Primary microcephaly, complex inheritance, digenic inheritance, exome sequencing, zebrafish

وصف الملف: 2 full-text file(s): application/pdf | application/pdf

العلاقة: uri/info:doi/10.1002/humu.23948; uri/info:pmid/31696992; uri/info:scp/85075718165; https://dipot.ulb.ac.be/dspace/bitstream/2013/296188/4/Supp_Mat.pdfTest; https://dipot.ulb.ac.be/dspace/bitstream/2013/296188/3/Duerinckx_et_al-2019-Human_Mutation.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/296188Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/296188Test
https://dipot.ulb.ac.be/dspace/bitstream/2013/296188/4/Supp_Mat.pdfTest
https://dipot.ulb.ac.be/dspace/bitstream/2013/296188/3/Duerinckx_et_al-2019-Human_Mutation.pdfTest

المؤلفون: Capoluongo, Ettore Domenico

المساهمون: Badoer, Cindy, Garrec, Celine, Goossens, Dirk, Ellison, Gillian, Mills, John, Dzial, Melina, El, Housni Hakim, Berwouts, Sarah, Concolino, Paola, Guibert Le, Guevellou Virginie, Delnatte, Capucine, Del, Favero Jurgen, Capoluongo, Ettore Domenico, Bezieau, Stephane

مصطلحات موضوعية: BRCA1-BRCA2, next generation sequencing, Settore BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27793035; info:eu-repo/semantics/altIdentifier/wos/WOS:000389877500100; volume:7; issue:49; firstpage:81357; lastpage:81366; numberofpages:10; issueyear:2016; journal:ONCOTARGET; http://hdl.handle.net/10807/95628Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85000981913

الإتاحة: https://doi.org/10.18632/oncotarget.12877Test
http://hdl.handle.net/10807/95628Test