المؤلفون: Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian M, Alhopuro, Pia, Benusiglio, Patrick R, Bourdeaut, Franck, Brecht, Ines B, Del Baldo, Giada, Dhanda, Sandeep Kumar, Garrè, Maria Luisa, Gidding, Corrie E M, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan M, Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid M, Evans, D Gareth, Brugieres, Laurence

المصدر: Guerrini-Rousseau , L , Masliah-Planchon , J , Waszak , S M , Alhopuro , P , Benusiglio , P R , Bourdeaut , F , Brecht , I B , Del Baldo , G , Dhanda , S K , Garrè , M L , Gidding , C E M , Hirsch , S , Hoarau , P , Jorgensen , M , Kratz , C , Lafay-Cousin , L , Mastronuzzi , A , Pastorino , L , Pfister , S M , Schroeder , C , Smith , M J , Vahteristo , P , Vibert ....

مصطلحات موضوعية: central nervous system diseases, congenital, hereditary, and neonatal diseases and abnormalities, genetic counseling, genetic predisposition to disease, germ-line mutation

العلاقة: https://research.manchester.ac.uk/en/publications/b4d9d9f3-ddd6-4619-b64a-50a7d312b9d5Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-108385Test
https://research.manchester.ac.uk/en/publications/b4d9d9f3-ddd6-4619-b64a-50a7d312b9d5Test
http://europepmc.org/abstract/med/35768194Test

المؤلفون: Guerrini-Rousseau, Lea, Masliah-Planchon, Julien, Waszak, Sebastian M., Alhopuro, Pia, Benusiglio, Patrick R., Bourdeaut, Franck, Brecht, Ines B., Del Baldo, Giada, Dhanda, Sandeep Kumar, Garre, Maria Luisa, Gidding, Corrie E. M., Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan M., Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid M., Evans, D. Gareth, Brugieres, Laurence

المساهمون: HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, ATG - Applied Tumor Genomics, Biosciences

مصطلحات موضوعية: genetic predisposition to disease, germ-line mutation, central nervous system diseases, genetic counseling, congenital, hereditary, and neonatal diseases and abnormalities, CHILDHOOD MEDULLOBLASTOMA, GORLIN SYNDROME, HUMAN HOMOLOG, MUTATIONS, PREDISPOSITION, CHILDREN, FAMILY, GENE, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: LB and LG-R have been supported by la Fondation Gustave Roussy campaign: Guerir Le Cancer de l'Enfant au 21eme siecle. DGE and MJS are supported by the National Institute for Health Research (NIHR) BRC Manchester (Grant Reference Number 1215-200074). CPK and SMP have been supported by the Deutsche Kinderkrebsstiftung (DKS2019.13).; Guerrini-Rousseau , L , Masliah-Planchon , J , Waszak , S M , Alhopuro , P , Benusiglio , P R , Bourdeaut , F , Brecht , I B , Del Baldo , G , Dhanda , S K , Garre , M L , Gidding , C E M , Hirsch , S , Hoarau , P , Jorgensen , M , Kratz , C , Lafay-Cousin , L , Mastronuzzi , A , Pastorino , L , Pfister , S M , Schroeder , C , Smith , M J , Vahteristo , P , Vibert , R , Vilain , C , Waespe , N , Winship , I M , Evans , D G & Brugieres , L 2022 , ' Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation : a collaborative study of the SIOPE Host Genome Working Group ' , Journal of Medical Genetics , vol. 59 , no. 11 , pp. 1123-1132 . https://doi.org/10.1136/jmedgenet-2021-108385Test; ee18a429-21bd-4a7b-883b-21286a2470de; http://hdl.handle.net/10138/350572Test; 000819488800001

الإتاحة: http://hdl.handle.net/10138/350572Test

المؤلفون: Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian M, Alhopuro, Pia, Benusiglio, Patrick R, Bourdeaut, Franck, Brecht, Ines B, Del Baldo, Giada, Dhanda, Sandeep Kumar, Garrè, Maria Luisa, Gidding, Corrie E M, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan M, Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid M, Evans, D Gareth, Brugieres, Laurence

المصدر: ISSN: 0022-2593 ; Journal of medical genetics, vol. 59, no. 11 (2022) p. 1123-1132.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Central nervous system diseases, Congenital, hereditary, and neonatal diseases and abnormalities, Genetic counseling, Genetic predisposition to disease, Germ-line mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35768194; https://archive-ouverte.unige.ch/unige:174533Test; unige:174533

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-108385Test
https://archive-ouverte.unige.ch/unige:174533Test

المؤلفون: Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian S.M., Alhopuro, Pia, Benusiglio, Patrick P.R., Bourdeaut, Franck, Brecht, Ines Beatrice, Del Baldo, Giada, Dhanda, Sandeep Kumar, Garre, Maria Luisa, Gidding, Corrie C.E.M., Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan Michael, Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid I.M., Evans, Gareth D.G., Brugières, Laurence

المصدر: Journal of medical genetics

مصطلحات موضوعية: Biologie, Génétique clinique, central nervous system diseases, congenital, hereditary, and neonatal diseases and abnormalities, genetic counseling, genetic predisposition to disease, germ-line mutation

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

العلاقة: uri/info:doi/10.1136/jmedgenet-2021-108385; uri/info:pmid/35768194; uri/info:scp/85134762384; https://dipot.ulb.ac.be/dspace/bitstream/2013/346943/1/doi_330587.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/346943Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/346943Test

المؤلفون: Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian M, Alhopuro, Pia, Benusiglio, Patrick R, Bourdeaut, Franck, Brecht, Ines B, Del Baldo, Giada, Dhanda, Sandeep Kumar, Garrè, Maria Luisa, Gidding, Corrie E M, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan M, Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid M, Evans, D Gareth, Brugieres, Laurence

المساهمون: Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian M, Alhopuro, Pia, Benusiglio, Patrick R, Bourdeaut, Franck, Brecht, Ines B, Del Baldo, Giada, Dhanda, Sandeep Kumar, Garrè, Maria Luisa, Gidding, Corrie E M, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan M, Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicola, Winship, Ingrid M, Evans, D Gareth, Brugieres, Laurence

مصطلحات موضوعية: central nervous system disease, congenital, hereditary, and neonatal diseases and abnormalitie, genetic counseling, genetic predisposition to disease, germ-line mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35768194; info:eu-repo/semantics/altIdentifier/wos/WOS:000819488800001; volume:59; issue:11; firstpage:1123; lastpage:1132; numberofpages:10; journal:JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11573/1672826Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85134762384

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-108385Test
https://hdl.handle.net/11573/1672826Test

المؤلفون: Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian M, Alhopuro, Pia, Benusiglio, Patrick R, Bourdeaut, Franck, Brecht, Ines B, Del Baldo, Giada, Dhanda, Sandeep Kumar, Garrè, Maria Luisa, Gidding, Corrie E M, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan M, Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid M, Evans, D Gareth, Brugieres, Laurence

المساهمون: Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian M, Alhopuro, Pia, Benusiglio, Patrick R, Bourdeaut, Franck, Brecht, Ines B, Del Baldo, Giada, Dhanda, Sandeep Kumar, Garrè, Maria Luisa, Gidding, Corrie E M, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan M, Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicola, Winship, Ingrid M, Evans, D Gareth, Brugieres, Laurence

مصطلحات موضوعية: central nervous system disease, congenital, hereditary, and neonatal diseases and abnormalitie, genetic counseling, genetic predisposition to disease, germ-line mutation

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35768194; info:eu-repo/semantics/altIdentifier/wos/WOS:000819488800001; firstpage:10385; lastpage:10394; numberofpages:10; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11567/1096095Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85134762384

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-108385Test
http://hdl.handle.net/11567/1096095Test