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

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

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

المؤلفون: Baptista Freitas, Marta, Desmyter, Laurence, Badoer, Cindy, Smits, Guillaume, Vandernoot, Isabelle, t´Kint de Roodenbeke, Daphné

المصدر: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-7, 7p

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

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

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/242971
https://dipot.ulb.ac.be/dspace/bitstream/2013/242971/3/doi_226598.pdf

المؤلفون: 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, 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

المصدر: Molecular genetics & genomic medicine, Vol. 9, no.9, p. e1768 (2021)

مصطلحات الفهرس: Cell Cycle Proteins, Child, Consanguinity, Epilepsy, Female, Gene Frequency, Genetic Heterogeneity, Genotype, Humans, Incidence, Male, Microcephaly, Nerve Tissue Proteins, Phenotype, Mendeliome, brain developmental disorders, consanguinity, epilepsy, primary microcephaly, rare disease, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/261621

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

الاتاحة: http://dx.doi.org/10.22541/au.160978661.19941555/v1

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

Relation: 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.pdf; https://dipot.ulb.ac.be/dspace/bitstream/2013/296188/3/Duerinckx_et_al-2019-Human_Mutation.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/296188

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

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

Relation: 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/10807/95628; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85000981913

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