المؤلفون: Velmans, Clara, O'Donnell-Luria, Anne H, Argilli, Emanuela, Mau-them, Frederic Tran, Vitobello, Antonio, Chan, Marcus CY, Fung, Jasmine Lee-Fong, Rech, Megan, Abicht, Angela, Mucca, Marion Aubert, Carmichael, Jason, Chassaing, Nicolas, Clark, Robin, Coubes, Christine, Denommé-Pichon, Anne-Sophie, de Dios, John Karl, England, Eleina, Funalot, Benoit, Gerard, Marion, Joseph, Maries, Kennedy, Colleen, Kumps, Camille, Willems, Marjolaine, van de Laar, Ingrid MBH, Aarts-Tesselaar, Coranne, van Slegtenhorst, Marjon, Lehalle, Daphné, Leppig, Kathleen, Lessmeier, Lennart, Pais, Lynn S, Paterson, Heather, Ramanathan, Subhadra, Rodan, Lance H, Superti-Furga, Andrea, Chung, Brian HY, Sherr, Elliott, Netzer, Christian, Schaaf, Christian P, Erger, Florian

المصدر: Journal of Medical Genetics. 59(7)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Human Genome, Autism, Mental Health, Neurosciences, Clinical Research, Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Aetiology, Mental health, Autism Spectrum Disorder, Child, Humans, Intellectual Disability, Megalencephaly, Neurodevelopmental Disorders, Seizures, Syndrome, Exome Sequencing, human genetics, genetic counselling, genetics, behavioural, mutation, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8vj1p265Test

المؤلفون: Hsieh, Tzung-Chien, Lesmann, Hellen, Hustinx, Alexander, Moosa, Shahida, Marchi, Elaine, Martin, Maria Del Pilar Caro, Abdelrazek, Ibrahim, Pantel, Jean Tori, Klinkhammer, Hannah, Hagen, Merle Ten, Thong, Meow-Keong, Mazlan, Rifhan Azwani Binti, Tae, Sok Kun, Kamphans, Tom, Meiswinkel, Wolfgang, Javanmardi, Behnam, Knaus, Alexej, Uwineza, Annette, Knopp, Cordula, Tkemaladze, Tinatin, Elbracht, Miriam, Mattern, Larissa, Jamra, Rami Abou, Velmans, Clara, Strehlow, Vincent, Jacob, Maureen, Peron, Angela, Dias, Cristina, Nunes, Beatriz, Vilella, Thainá, Pinheiro, Isabel, Kim, Chong, Melaragno, Maria, Weiland, Hannah, Kaptain, Sophia, Chwiałkowska, Karolina, Kwasniewski, Miroslaw, Saad, Ramy, Wiethoff, Sarah, Goel, Himanshu, Tang, Clara, Hau, Anna, Barakat, Tahsin Stefan, Panek, Przemysław, Nabil, Amira, Suh, Julia, Braun, Frederik, Gomy, Israel, Averdunk, Luisa, Ekure, Ekanem, Bergant, Gaber, Peterlin, Borut, Graziano, Claudio, Gaboon, Nagwa, Fiesco-Roa, Moisés, Spinelli, Alessandro, Wilpert, Nina-Maria, Phowthongkum, Prasit, Güzel, Nergis, Haack, Tobias, Bitar, Rana, Tzschach, Andreas, Rodriguez-Palmero, Agusti, Brunet, Theresa, Rudnik-Schöneborn, Sabine, Contreras-Capetillo, Silvina, Oberlack, Ava, Samango-Sprouse, Carole, Sadeghin, Teresa, Olaya, Margaret, Platzer, Konrad, Borovikov, Artem, Schnabel, Franziska, Heuft, Lara, Herrmann, Vera, Elkhateeb, Nour, Kumar, Sheetal, Komlosi, Katalin, Mohamed, Khoushoua, Kalantari, Silvia, Sirchia, Fabio, Martinez-Monseny, Antonio, Höller, Matthias, Mohamed, Amal, Lasa-Aranzasti, Amaia, Sayer, John, Ehmke, Nadja, Danyel, Magdalena, Sczakiel, Henrike, Schwartzmann, Sarina, Boschann, Felix, Zhao, Max, Adams, Ronja, Einicke, Lara, Chew, Kee Seang, Kam, Choy Chen, Karakoyun, Miray, Pode-Shakked, Ben, Eliyahu, Aviva, Rock, Rachel, Carrion, Teresa, Chorin, Odelia, Zarate, Yuri, Martinez, Marcello, Karakaya, Mert, Tung, Moon Ley, Chandra, Bharatendu, Lumaka, Aimé, Shinawi, Marwan, Blackburn, Patrick, Wang, Tianyun, Niehues, Tim, Hu, Ping, Waikel, Rebekah, Hanchard, Suzanna Ledgister, Elmakkawy, Gehad, Safwat, Sylvia, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bezieau, Stephane, Arlt, Annabelle, Marbach, Felix, Li, Dong, Dupuis, Lucie, Mendoza-Londono, Roberto, Houge, Sofia Douzgou, Weis, Denisa, Mak, Christopher, Elcioglu, Nursel, Aykut, Ayca, Şimşek-Kiper, Peli, Bögershausen, Nina, Wollnik, Bernd, Bentzen, Heidi Beate, Kurth, Ingo, Netzer, Christian, Jezela-Stanek, Aleksandra, Devriendt, Koen, Gripp, Karen, Mücke, Martin, Verloes, Alain, Schaaf, Christian, Nellåker, Christoffer, Solomon, Benjamin, Nöthen, Markus, Abdalla, Ebtesam, Lyon, Gholson, Krawitz, Peter, Kayserili, Hulya, Toutouna, Louiza, Schmidt, Axel, Roth, Regina, Wieczorek, Dagmar, Olinger, Eric

المصدر: Hsieh , T-C , Lesmann , H , Hustinx , A , Moosa , S , Marchi , E , Martin , M D P C , Abdelrazek , I , Pantel , J T , Klinkhammer , H , Hagen , M T , Thong , M-K , Mazlan , R A B , Tae , S K , Kamphans , T , Meiswinkel , W , Javanmardi , B , Knaus , A , Uwineza , A , Knopp , C , Tkemaladze , T , Elbracht , M , Mattern , L , Jamra , R ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eabTest

الإتاحة: https://doi.org/10.21203/rs.3.rs-4438861/v1Test
https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eabTest
https://pure.eur.nl/ws/files/154580872/GestaltMatcher_Database_-_A_global_reference_for_facial_phenotypic_variability_in_rare_human_diseases.pdfTest

المؤلفون: Howaldt, Antonia, Lenglez, Sandrine, Velmans, Clara, Schultheis, Anne Maria, Clahsen, Thomas, Matthaei, Mario, Kohlhase, Jürgen, Vokuhl, Christian, Büttner, Reinhard, Netzer, Christian, Demoulin, Jean-Baptiste, Cursiefen, Claus

المساهمون: UCL - SSS/DDUV/MEXP - Médecine expérimentale

المصدر: Ophthalmology science, Vol. 4, no.3, p. 100444 (2024)

مصطلحات موضوعية: Corneal myofibroma, Imatinib, Infantile myofibromatosis, PDGFRB, Receptor tyrosine kinase inhibitor

العلاقة: boreal:285157; http://hdl.handle.net/2078.1/285157Test; info:pmid/38374928; urn:ISSN:2666-9145; urn:EISSN:2666-9145

الإتاحة: https://doi.org/10.1016/j.xops.2023.100444Test
http://hdl.handle.net/2078.1/285157Test

المؤلفون: Etich, Julia, Semler, Oliver, Stevenson, Nicola L, Stephan, Alice, Besio, Roberta, Garibaldi, Nadia, Reintjes, Nadine, Dafinger, Claudia, Liebau, Max Christoph, Baumann, Ulrich, Mörgelin, Matthias, Forlino, Antonella, Stephens, David J, Netzer, Christian, Zaucke, Frank, Rehberg, Mirko

المساهمون: Deutsche Forschungsgemeinschaft, Biotechnology and Biological Sciences Research Council

المصدر: EMBO Molecular Medicine ; volume 15, issue 7 ; ISSN 1757-4676 1757-4684

مصطلحات موضوعية: Molecular Medicine

الإتاحة: https://doi.org/10.15252/emmm.202317528Test

المؤلفون: Lesmann, Hellen, Moosa, Shahida, Pantel, Tori, Rosnev, Stanislav, Hustinx, Alexander, Javanmardi, Behnam, Knaus, Alexej, Kamphans, Tom, Meiswinkel, Wolfgang, Li, Jing-Mei, Hagen, Merle ten, Caro, Pilar, Velmans, Clara, Höller, Matthias, Abdelrazek, Ibrahim, Elmakkawy, Gehad, Alaadin, Khoushoua, Coetzer, Kimberly Christine, Ebstein, Frédéric, Küry, Sebastian, Abdalla, Ebtesam, Elbracht, Miriam, Knopp, Cordula, Arlt, Annabelle, Graziano, Claudio, Artem, Borovikov, Uwineza, Annette, Marbach, Felix, Netzer, Christian, Jamra, Rami Abou, Nöthen, Markus, Lyon, Gholson, Krawitz, Peter, Hsieh, Tzung-Chien

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100225 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100225Test
https://api.elsevier.com/content/article/PII:S294977442300225X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S294977442300225X?httpAccept=text/plainTest

المؤلفون: Lesmann, Hellen, Hustinx, Alexander, Moosa, Shahida, Klinkhammer, Hannah, Marchi, Elaine, Caro, Pilar, Abdelrazek, Ibrahim M, Pantel, Jean Tori, Hagen, Merle Ten, Thong, Meow-Keong, Binti Mazlan, Rifhan Azwani, Tae, Sok Kun, Kamphans, Tom, Meiswinkel, Wolfgang, Li, Jing-Mei, Javanmardi, Behnam, Knaus, Alexej, Uwineza, Annette, Knopp, Cordula, Tkemaladze, Tinatin, Elbracht, Miriam, Mattern, Larissa, Jamra, Rami Abou, Velmans, Clara, Strehlow, Vincent, Jacob, Maureen, Peron, Angela, Dias, Cristina, Nunes, Beatriz Carvalho, Vilella, Thainá, Pinheiro, Isabel Furquim, Kim, Chong Ae, Melaragno, Maria Isabel, Weiland, Hannah, Kaptain, Sophia, Chwiałkowska, Karolina, Kwasniewski, Miroslaw, Saad, Ramy, Wiethoff, Sarah, Goel, Himanshu, Tang, Clara, Hau, Anna, Barakat, Tahsin Stefan, Panek, Przemysław, Nabil, Amira, Suh, Julia, Braun, Frederik, Gomy, Israel, Averdunk, Luisa, Ekure, Ekanem, Bergant, Gaber, Peterlin, Borut, Graziano, Claudio, Gaboon, Nagwa, Fiesco-Roa, Moisés, Spinelli, Alessandro Mauro, Wilpert, Nina-Maria, Phowthongkum, Prasit, Güzel, Nergis, Haack, Tobias B, Bitar, Rana, Tzschach, Andreas, Rodriguez-Palmero, Agusti, Brunet, Theresa, Rudnik-Schöneborn, Sabine, Contreras-Capetillo, Silvina Noemi, Oberlack, Ava, Samango-Sprouse, Carole, Sadeghin, Teresa, Olaya, Margaret, Platzer, Konrad, Borovikov, Artem, Schnabel, Franziska, Heuft, Lara, Herrmann, Vera, Oegema, Renske, Elkhateeb, Nour, Kumar, Sheetal, Komlosi, Katalin, Mohamed, Khoushoua, Kalantari, Silvia, Sirchia, Fabio, Martinez-Monseny, Antonio F, Höller, Matthias, Toutouna, Louiza, Mohamed, Amal, Lasa-Aranzasti, Amaia, Sayer, John A, Ehmke, Nadja, Danyel, Magdalena, Sczakiel, Henrike, Schwartzmann, Sarina, Boschann, Felix, Zhao, Max, Adam, Ronja, Einicke, Lara, Horn, Denise, Chew, Kee Seang, Kam, Choy Chen, Karakoyun, Miray, Pode-Shakked, Ben, Eliyahu, Aviva, Rock, Rachel, Carrion, Teresa, Chorin, Odelia, Zarate, Yuri A, Conti, Marcelo Martinez, Karakaya, Mert, Tung, Moon Ley, Chandra, Bharatendu, Bouman, Arjan, Lumaka, Aime, Wasif, Naveed, Shinawi, Marwan, Blackburn, Patrick R, Wang, Tianyun, Niehues, Tim, Schmidt, Axel, Roth, Regina Rita, Wieczorek, Dagmar, Hu, Ping, Waikel, Rebekah L, Ledgister Hanchard, Suzanna E, Elmakkawy, Gehad, Safwat, Sylvia, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Arlt, Annabelle, Olinger, Eric, Marbach, Felix, Li, Dong, Dupuis, Lucie, Mendoza-Londono, Roberto, Houge, Sofia Douzgou, Weis, Denisa, Chung, Brian Hon-Yin, Mak, Christopher C Y, Kayserili, Hülya, Elcioglu, Nursel, Aykut, Ayca, Şimşek-Kiper, Peli Özlem, Bögershausen, Nina, Wollnik, Bernd, Bentzen, Heidi Beate, Kurth, Ingo, Netzer, Christian, Jezela-Stanek, Aleksandra, Devriendt, Koen, Gripp, Karen W, Mücke, Martin, Verloes, Alain, Schaaf, Christian P, Nellåker, Christoffer, Solomon, Benjamin D, Nöthen, Markus M, Abdalla, Ebtesam, Lyon, Gholson J, Krawitz, Peter M, Hsieh, Tzung-Chien

المصدر: Res Sq

العلاقة: https://doi.org/10.21203/rs.3.rs-4438861/v1Test; https://pubmed.ncbi.nlm.nih.gov/38903062Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11188141Test/

الإتاحة: https://doi.org/10.21203/rs.3.rs-4438861/v1Test
https://pubmed.ncbi.nlm.nih.gov/38903062Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11188141Test/

المؤلفون: Morlot, Susanne, Netzer, Christian

المصدر: Medizinische Genetik ; volume 33, issue 1, page 1-2 ; ISSN 1863-5490 0936-5931

الإتاحة: https://doi.org/10.1515/medgen-2021-2050Test

المؤلفون: Netzer, Christian, Velmans, Clara, Erger, Florian, Schreml, Julia

المصدر: Medizinische Genetik ; volume 33, issue 1, page 13-19 ; ISSN 1863-5490 0936-5931

الإتاحة: https://doi.org/10.1515/medgen-2021-2052Test

المؤلفون: Etich, Julia, Leßmeier, Lennart, Rehberg, Mirko, Sill, Helge, Zaucke, Frank, Netzer, Christian, Semler, Oliver

المصدر: http://lobid.org/resources/99370673895506441Test#!, 7(1):9.

مصطلحات موضوعية: Genetic heterogeneity, Pathophysiology, Therapy, Mini Review, Osteogenesis imperfecta, Bisphosphonates

العلاقة: https://repository.publisso.de/resource/frl:6472286Test; https://doi.org/10.1186/s40348-020-00101-9Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427672Test/

الإتاحة: https://doi.org/10.1186/s40348-020-00101-9Test
https://repository.publisso.de/resource/frl:6472286Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427672Test/

المؤلفون: van Dijk, Fleur S., Semler, Oliver, Etich, Julia, Köhler, Anna, Jimenez-Estrada, Juan A., Bravenboer, Nathalie, Claeys, Lauria, Riesebos, Elise, Gegic, Sejla, Piersma, Sander R., Jimenez, Connie R., Waisfisz, Quinten, Flores, Carmen Lisset, Nevado, Julian, Harsevoort, Arjan J., Janus, Guus J.M., Franken, Anton A.M., van der Sar, Astrid M., Meijers-Heijboer, Hanne, Heath, Karen E., Lapunzina, Pablo, Nikkels, Peter G.J., Santen, Gijs W.E., Nüchel, Julian, Plomann, Markus, Wagener, Raimund, Rehberg, Mirko, Hoyer-Kuhn, Heike, Eekhoff, Elisabeth M.W., Pals, Gerard, Mörgelin, Matthias, Newstead, Simon, Wilson, Brian T., Ruiz-Perez, Victor L., Maugeri, Alessandra, Netzer, Christian, Zaucke, Frank, Micha, Dimitra

المصدر: van Dijk , F S , Semler , O , Etich , J , Köhler , A , Jimenez-Estrada , J A , Bravenboer , N , Claeys , L , Riesebos , E , Gegic , S , Piersma , S R , Jimenez , C R , Waisfisz , Q , Flores , C L , Nevado , J , Harsevoort , A J , Janus , G J M , Franken , A A M , van der Sar , A M , Meijers-Heijboer , H , Heath , K E , Lapunzina , P , ....

مصطلحات موضوعية: HSP47, KDELR2, osteogenesis imperfecta, retrograde Golgi-ER transport

العلاقة: https://research.rug.nl/en/publications/e1bb1adc-45f0-4248-9dbb-1b7185512c23Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.09.009Test
https://hdl.handle.net/11370/e1bb1adc-45f0-4248-9dbb-1b7185512c23Test
https://research.rug.nl/en/publications/e1bb1adc-45f0-4248-9dbb-1b7185512c23Test
http://www.scopus.com/inward/record.url?scp=85094975571&partnerID=8YFLogxKTest