المؤلفون: Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean-Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H. M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elisabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C. M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C.

وصف الملف: text

Relation: https://publications.aston.ac.uk/id/eprint/46181/1/Lacombe_RTSguidelines_final_version_clean_01-19-2024.pdf; https://publications.aston.ac.uk/id/eprint/46181/2/Lacombe_RTSguidelines_Recommendations_final.pdf; https://publications.aston.ac.uk/id/eprint/46181/11/Diagnosis_and_management_in_Rubinstein-Taybi_syndrome_first_international_consensus_statement.pdf; Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane , Adrien, Jean-Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H. M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elisabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C. M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan and Hennekam, Raoul C. (2024). Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Journal of Medical Genetics, 61 (6), pp. 503-519.

الاتاحة: https://publications.aston.ac.uk/id/eprint/46181/
https://publications.aston.ac.uk/id/eprint/46181/2/Lacombe_RTSguidelines_Recommendations_final.pdf

المؤلفون: MS Oogheelkunde, Child Health, Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C.

URL: https://doi.org/10.1136/jmg-2023-109438
http://hdl.handle.net/1874/454640
https://dspace.library.uu.nl/handle/1874/454640
http://www.scopus.com/inward/record.url?scp=85188468637&partnerID=8YFLogxK
0022-2593
Journal of Medical Genetics
61
6
503
519

المؤلفون: Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C.

المصدر: Lacombe , D , Bloch-Zupan , A , Bredrup , C , Cooper , E B , Houge , S D , García-Miñaúr , S , Kayserili , H , Larizza , L , Lopez Gonzalez , V , Menke , L A , Milani , D , Saettini , F , Stevens , C A , Tooke , L , Van Der Zee , J A , Van Genderen , M M , Van-Gils , J , Waite , J , Adrien , J L , Bartsch , O , Bitoun , P , Bouts , A H M , Cueto-González , A M , Dominguez-Garrido , E , Duijkers , F A , Fergelot , P , Halstead , E , Huisman , S A , Meossi , C , Mullins , J , Nikkel , S M , Oliver , C , Prada , E , Rei , A , Riddle , I , Rodriguez-Fonseca , C , Rodríguez Pena , R , Russell , J , Saba , A , Santos-Simarro , F , Simpson , B N , Smith , D F , Stevens , M F , Szakszon , K , Taupiac , E , Totaro , N , Valenzuena Palafoll , I , Van Der Kaay , D C M , Van Wijk , M P , Vyshka , K , Wiley , S & Hennekam , R C 2024 , ' Diagnosis and management in Rubinstein-Taybi syndrome : first international consensus statement ' , Journal of medical genetics , vol. 61 , no. 6 , pp. 503-519 .

مصطلحات الفهرس: article

URL: https://pure.eur.nl/en/publications/f3eacd1f-32bd-49e5-8837-d72ddf9fb418

المؤلفون: Levetan, Candice, Van Gils, Julien, Saba, Alicia, Rodríguez-Fonseca, Cristina, Fieggen, Karen, Tooke, Lloyd

المصدر: The Journal of Pediatrics ; volume 249, page 106-110 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2022.06.038
https://api.elsevier.com/content/article/PII:S0022347622006187?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347622006187?httpAccept=text/plain