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1مؤتمر
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s003Test
https://figshare.com/articles/presentation/Presentation3_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589446Test -
2مؤتمر
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s007Test
https://figshare.com/articles/presentation/Presentation7_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589458Test -
3مؤتمر
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s006Test
https://figshare.com/articles/presentation/Presentation6_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589455Test -
4مؤتمر
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s002Test
https://figshare.com/articles/presentation/Presentation2_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589443Test -
5مؤتمر
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s004Test
https://figshare.com/articles/presentation/Presentation4_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589449Test -
6مؤتمر
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s001Test
https://figshare.com/articles/presentation/Presentation1_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589440Test -
7دورية أكاديمية
المؤلفون: Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Karen Stals, Caroline Maxton, Johannes R. Lemke, John A. Bernat, Hannah M. Bombei, Nicola Foulds, David Hunt, Alma Kuechler, Jasmin Beygo, Petra Stöbe, Arjan Bouman, Maria Palomares-Bralo, Fernando Santos-Simarro, Sixto Garcia-Minaur, Marta Pacio-Miguez, Bernt Popp, Georgia Vasileiou, Moritz Hebebrand, André Reis, Sarah Schuhmann, Mandy Krumbiegel, Natasha J. Brown, Peter Sparber, Lyusya Melikyan, Liudmila Bessonova, Tatiana Cherevatova, Artem Sharkov, Natalia Shcherbakova, Tabib Dabir, Usha Kini, Eva M.C. Schwaibold, Tobias B. Haack, Marta Bertoli, Sabine Hoffjan, Ruth Falb, Marwan Shinawi, Heinrich Sticht, Christiane Zweier
العلاقة: info:eu-repo/grantAgreement/EC/H2020/837547/; https://zenodo.org/record/5510296Test; https://doi.org/10.1093/hmg/ddab265Test; oai:zenodo.org:5510296
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8
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s008Test
https://figshare.com/articles/dataset/Table1_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_XLSX/19589461Test -
9
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s009Test
https://figshare.com/articles/dataset/Table2_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_XLSX/19589464Test -
10
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s010Test
https://figshare.com/articles/dataset/Table3_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_DOCX/19589467Test