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

Relation: https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eab

الاتاحة: https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eab
https://doi.org/10.21203/rs.3.rs-4438861/v1
https://pure.eur.nl/ws/files/154580872/GestaltMatcher_Database_-_A_global_reference_for_facial_phenotypic_variability_in_rare_human_diseases.pdf

المؤلفون: Sluijs, Pleuntje J. van der, Moutton, Sebastien, Dingemans, A.J.M., Weis, Denisa, Levy, Michael A., Boycott, Kym M., Kempers, M.J.E., Vries, B.B.A. de, Alders, Marielle, Santen, Gijs W.E.

المصدر: Genetics in Medicine, 27, 1, pp. 101283

مصطلحات موضوعية: Human Genetics - Radboud University Medical Center - DCMN

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/313611/313611.pdf; https://hdl.handle.net/2066/313611

الاتاحة: https://hdl.handle.net/2066/313611
https://repository.ubn.ru.nl//bitstream/handle/2066/313611/313611.pdf
https://doi.org/10.1016/j.gim.2024.101283

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

وصف الملف: text

Relation: https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx; https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdf; Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry and Maroofian, Reza (2023) Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics in Medicine, 25 (1), 135-142. (doi:10.1016/j.gim.2022.09.016 ).

الاتاحة: https://eprints.soton.ac.uk/472172/
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx
https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdf

المؤلفون: Weis, Denisa, Kušíková, Katarína, Ficek, Andrej

مصطلحات موضوعية: MTM1 gene, myotubularin, X-linked myotubular myopathy, centronuclear myopathy, genotype–phenotype correlations, DeepGestalt technology, Face2Gene application

جغرافية الموضوع: vls-obvuli-2131401

وصف الملف: text/html

Relation: vignette : https://epub.jku.at/titlepage/urn/urn:nbn:at:at-ubl:3-21970/128; urn:nbn:at:at-ubl:3-21970; https://resolver.obvsg.at/urn:nbn:at:at-ubl:3-21970; local:99147847055003331; system:AC17043486

الاتاحة: https://epub.jku.at/doi/10.3390/ genes14122174
https://resolver.obvsg.at/urn:nbn:at:at-ubl:3-21970

المؤلفون: Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh Sadat, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Hallie E, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Mohnish, Suri, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza

المصدر: Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; . (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/178597/

الاتاحة: https://boris.unibe.ch/178597/1/awad039.pdf
https://boris.unibe.ch/178597/

المؤلفون: Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad

المصدر: Oppermann , H , Marcos-Grañeda , E , Weiss , L A , Gurnett , C A , Jelsig , A M , Vineke , S H , Isidor , B , Mercier , S , Magnussen , K , Zacher , P , Hashim , M , Pagnamenta , A T , Race , S , Srivastava , S , Frazier , Z , Maiwald , R , Pergande , M , Milani , D , Rinelli , M , Levy , J , Krey , I , Fontana , P , Lonardo , F , Riley , ....

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/aa171641-9049-44ce-a58b-3ccc6d707efe

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/aa171641-9049-44ce-a58b-3ccc6d707efe
https://doi.org/10.1038/s41431-023-01445-2
https://findresearcher.sdu.dk/ws/files/245118658/s41431_023_01445_2.pdf

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad YV, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T, Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C, Redman, Melody, Stegmann, Alexander PA, Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, McLean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Chromatinopathy, Mendelian disorders of the epigenetic machinery, PRMT7, Syndromic neurodevelopmental disorder, Syndromic obesity

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf; https://discovery.ucl.ac.uk/id/eprint/10160152/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf
https://discovery.ucl.ac.uk/id/eprint/10160152/

المؤلفون: Nagy, Dóra, Verheyen, Sarah, Wigby, Kristen M., Borovikov, Artem, Sharkov, Artem, Slegesky, Valerie, Larson, Austin, Fagerberg, Christina, Brasch-Andersen, Charlotte, Kibæk, Maria, Bader, Ingrid, Hernan, Rebecca, High, Frances A., Chung, Wendy K., Schieving, Jolanda H., Behunova, Jana, Smogavec, Mateja, Laccone, Franco, Witsch-Baumgartner, Martina, Zobel, Joachim, Duba, Hans Christoph, Weis, Denisa

المصدر: Nagy , D , Verheyen , S , Wigby , K M , Borovikov , A , Sharkov , A , Slegesky , V , Larson , A , Fagerberg , C , Brasch-Andersen , C , Kibæk , M , Bader , I , Hernan , R , High , F A , Chung , W K , Schieving , J H , Behunova , J , Smogavec , M , Laccone , F , Witsch-Baumgartner , M , Zobel , J , Duba , H C & Weis , D 2022 , ' Genotype-Phenotype Comparison in POGZ-Related ....

مصطلحات موضوعية: Clinical scoring, Deep facial gestalt analysis, Genotype-phenotype association, Neurodevelopmental disorder, Nonsense-mediated RNA decay, POGZ gene, White-Sutton syndrome

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/62c87a9a-3551-40d4-b130-39997d7cf3e2

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/62c87a9a-3551-40d4-b130-39997d7cf3e2
https://doi.org/10.3390/genes13010154
https://findresearcher.sdu.dk/ws/files/197720347/genes_13_00154_v3.pdf

المؤلفون: Smogavec, Mateja, Gerykova Bujalkova, Maria, Lehner, Reinhard, Neesen, Jürgen, Behunova, Jana, Yerlikaya-Schatten, Gülen, Reischer, Theresa, Altmann, Reinhard, Weis, Denisa, Duba, Hans-Christoph, Laccone, Franco

المصدر: European Journal of Human Genetics ; volume 30, issue 4, page 428-438 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-021-01012-7
https://www.nature.com/articles/s41431-021-01012-7.pdf
https://www.nature.com/articles/s41431-021-01012-7

المؤلفون: Szafranski, Przemyslaw, Majewski, Tadeusz, Yıldız Bölükbaşı, Esra, Gambin, Tomasz, Karolak, Justyna A., Cortes-Santiago, Nahir, Bruckner, Markus, Amann, Gabriele, Weis, Denisa, Stankiewicz, Paweł

المساهمون: National Institutes of Health, National Heart, Lung, and Blood Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development

المصدر: Genes & Diseases ; volume 9, issue 6, page 1423-1426 ; ISSN 2352-3042

الاتاحة: http://dx.doi.org/10.1016/j.gendis.2022.05.002
https://api.elsevier.com/content/article/PII:S2352304222001362?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352304222001362?httpAccept=text/plain

المؤلفون: Wortmann, Saskia B., Ziętkiewicz, Szymon, Guerrero-Castillo, Sergio, Feichtinger, René G., Wagner, Matias, Russell, Jacqui, Ellaway, Carolyn, Mróz, Dagmara, Wyszkowski, Hubert, Weis, Denisa, Hannibal, Iris, von Stülpnagel, Celina, Cabrera-Orefice, Alfredo, Lichter-Konecki, Uta, Gaesser, Jenna, Windreich, Randy, Myers, Kasiani C., Lorsbach, Robert, Dale, Russell C., Gersting, Søren, Prada, Carlos E., Christodoulou, John, Wolf, Nicole I., Venselaar, Hanka, Mayr, Johannes A., Wevers, Ron A.

المصدر: Wortmann , S B , Ziętkiewicz , S , Guerrero-Castillo , S , Feichtinger , R G , Wagner , M , Russell , J , Ellaway , C , Mróz , D , Wyszkowski , H , Weis , D , Hannibal , I , von Stülpnagel , C , Cabrera-Orefice , A , Lichter-Konecki , U , Gaesser , J , Windreich , R , Myers , K C , Lorsbach , R , Dale , R C , Gersting , S , Prada , C E , Christodoulou , J , Wolf , N I , ....

الاتاحة: https://research.vumc.nl/en/publications/26ef6ee5-7c81-49b0-bc79-4ba302df7fe2
https://doi.org/10.1038/s41436-021-01280-0
http://www.scopus.com/inward/record.url?scp=85111657647&partnerID=8YFLogxK

المؤلفون: Wortmann, Saskia B., Ziętkiewicz, Szymon, Guerrero-Castillo, Sergio, Feichtinger, René G., Wagner, Matias, Russell, Jacqui, Ellaway, Carolyn, Mróz, Dagmara, Wyszkowski, Hubert, Weis, Denisa, Hannibal, Iris, von Stülpnagel, Celina, Cabrera-Orefice, Alfredo, Lichter-Konecki, Uta, Gaesser, Jenna, Windreich, Randy, Myers, Kasiani C., Lorsbach, Robert, Dale, Russell C., Gersting, Søren, Prada, Carlos E., Christodoulou, John, Wolf, Nicole I., Venselaar, Hanka, Mayr, Johannes A., Wevers, Ron A.

المصدر: Wortmann , S B , Ziętkiewicz , S , Guerrero-Castillo , S , Feichtinger , R G , Wagner , M , Russell , J , Ellaway , C , Mróz , D , Wyszkowski , H , Weis , D , Hannibal , I , von Stülpnagel , C , Cabrera-Orefice , A , Lichter-Konecki , U , Gaesser , J , Windreich , R , Myers , K C , Lorsbach , R , Dale , R C , Gersting , S , Prada , C E , Christodoulou , J , Wolf , N I , ....

الاتاحة: https://research.vumc.nl/en/publications/00e30ec5-c75a-4abe-900a-ffedc9016723
https://doi.org/10.1038/s41436-021-01194-x
http://www.scopus.com/inward/record.url?scp=85108056903&partnerID=8YFLogxK

المؤلفون: Manzanilla‐Romero, Héctor Hugo, Weis, Denisa, Schnaiter, Simon, Rudnik‐Schöneborn, Sabine

المصدر: American Journal of Medical Genetics Part A ; volume 185, issue 12, page 3851-3858 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62433
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62433
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62433

المؤلفون: Kuš�ková, Katarína, Feichtinger, René Günther, Csillag, Bernhard, Kalev, Ognian Kostadinov, Weis, Serge, Duba, Hans-Christoph, Mayr, Johannes Adalbert, Weis, Denisa

المصدر: Frontiers in Pediatrics ; volume 9 ; ISSN 2296-2360

الاتاحة: http://dx.doi.org/10.3389/fped.2021.660076
https://www.frontiersin.org/articles/10.3389/fped.2021.660076/full

المؤلفون: Eunice Kennedy Shriver National Institute of Child Health and Human Development (US), National Institutes of Health (US), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Hospital for Sick Children (Canada), University of Toronto, University of Southern Denmark, Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Kjaersgaard Hansen, Lars, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad

مصطلحات الفهرس: Epilepsy, Neurodevelopmental disorders, artículo

URL: http://hdl.handle.net/10261/341970
Publisher's version
http://dx.doi.org/10.1038/s41431-023-01445-2
Sí
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-112831GB-I00/ES/MECANISMOS DE DESARROLLO Y PLASTICIDAD DEL CUERPO CALLOSO. INTERVENCIONES GENETICAS Y FARMACOLOGICAS PARA REPARAR LOS CIRCUITOS.

المؤلفون: Weis, Denisa^1,2 denisa.weis@kepleruniklinikum.at, Lin, Liangguang L.^3,4, Wang, Huilun H.^3,4, Jason Li, Zexin^3,5, Kusikova, Katarina⁶, Ciznar, Peter², Wolf, Hermann M.^7,8, Leiss-Piller, Alexander⁷, Zhihong Wang^3,4, Xiaoqiong Wei^3,4, Weis, Serge⁹, Skalicka, Katarina², Hrckova, Gabriela², Danisovic, Lubos¹⁰, Soltysova, Andrea^11,12, Yang, Tingxuan T.⁴, Feichtinger, René Günther¹³, Mayr, Johannes A.¹³ h.mayr@salk.at, Ling Qi^3,4,5 xvr2hm@virginia.edu

المصدر: Journal of Clinical Investigation. 1/16/2024, Vol. 134 Issue 2, p1-14. 14p.

مصطلحات موضوعية: *EARLY death, *NEURAL development, *B cells, *INVERSE relationships (Mathematics), *ENERGY metabolism, *AGAMMAGLOBULINEMIA, *VON Hippel-Lindau disease

المؤلفون: Kušíková, Katarína, Šoltýsová, Andrea, Ficek, Andrej, Feichtinger, René G., Mayr, Johannes A., Škopková, Martina, Gašperíková, Daniela, Kolníková, Miriam, Ornig, Karoline, Kalev, Ognian, Weis, Serge, Weis, Denisa

المصدر: Genes; Dec2023, Vol. 14 Issue 12, p2174, 13p

مصطلحات موضوعية: PROGNOSIS, MUSCLE diseases, MISSENSE mutation, NEONATAL mortality, RESPIRATORY insufficiency

المؤلفون: Karimi, Karim, Weis, Denisa, Aukrust, Ingvild, Hsieh, Tzung-Chien, Horackova, Marie, Paulsen, Julie, Mendoza Londono, Roberto, Dupuis, Lucie, Dickson, Megan, Lesman, Hellen, Lau, Tracy, Murphy, David, Hama Salih, Khalid, Al-Musawi, Bassam M. S., Al-Obaidi, Ruqayah G. Y., Rydzanicz, Malgorzata, Biela, Mateus, Santos, Mafalda Saraiva, Aldeeri, Abdulrahman, Gazda, Hanna T., Pais, Lynn, Shril, Shirlee, Døllner, Henrik, Bartakke, Sandip, Laccone, Franco, Soltysova, Andrea, Kitzler, Thomas, Soliman, Neveen A., Relator, Raissa, Levy, Michael A., Kerkhof, Jennifer, Rzasa, Jessica, Houlden, Henry, Pilshofer, Gabriela V., Jobst-Schwan, Tilman, Hildebrandt, Friedhelm, Sousa, Sergio B., Maroofian, Reza, Yu, Timothy W., Krawitz, Peter, Sadikovic, Bekim, Douzgou Houge, Sofia

المصدر: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p

المؤلفون: Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad

المصدر: European Journal of Human Genetics: EJHG; November 2023, Vol. 31 Issue: 11 p1251-1260, 10p

المؤلفون: Wortmann, Saskia B., Ziętkiewicz, Szymon, Guerrero-Castillo, Sergio, Feichtinger, René G., Wagner, Matias, Russell, Jacqui, Ellaway, Carolyn, Mróz, Dagmara, Wyszkowski, Hubert, Weis, Denisa, Hannibal, Iris, von Stülpnagel, Celina, Cabrera-Orefice, Alfredo, Lichter-Konecki, Uta, Gaesser, Jenna, Windreich, Randy, Myers, Kasiani C., Lorsbach, Robert, Dale, Russell C., Gersting, Søren, Prada, Carlos E., Christodoulou, John, Wolf, Nicole I., Venselaar, Hanka, Mayr, Johannes A., Wevers, Ron A.

المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Genetics in Medicine, 23(9). Lippincott Williams and Wilkins
Wortmann, S B, Ziętkiewicz, S, Guerrero-Castillo, S, Feichtinger, R G, Wagner, M, Russell, J, Ellaway, C, Mróz, D, Wyszkowski, H, Weis, D, Hannibal, I, von Stülpnagel, C, Cabrera-Orefice, A, Lichter-Konecki, U, Gaesser, J, Windreich, R, Myers, K C, Lorsbach, R, Dale, R C, Gersting, S, Prada, C E, Christodoulou, J, Wolf, N I, Venselaar, H, Mayr, J A & Wevers, R A 2021, ' Correction to : Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency (Genetics in Medicine, (2021), 23, 9, (1705-1714), 10.1038/s41436-021-01194-x) ', Genetics in Medicine, vol. 23, no. 9, pp. 1789 . https://doi.org/10.1038/s41436-021-01280-0

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7604daffb7dc71b596b79e782c1f40dd
https://research.vumc.nl/en/publications/26ef6ee5-7c81-49b0-bc79-4ba302df7fe2