المؤلفون: Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, Cremers, Frans

المصدر: Biomolecules. 14(3)

مصطلحات موضوعية: inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/00w3d2bqTest

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 ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/f3eacd1f-32bd-49e5-8837-d72ddf9fb418Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109438Test
https://pure.eur.nl/en/publications/f3eacd1f-32bd-49e5-8837-d72ddf9fb418Test
https://pure.eur.nl/ws/files/150821211/503.full.pdfTest
http://www.scopus.com/inward/record.url?scp=85188468637&partnerID=8YFLogxKTest

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

العلاقة: https://publications.aston.ac.uk/id/eprint/46181/1/Lacombe_RTSguidelines_final_version_clean_01-19-2024.pdfTest; https://publications.aston.ac.uk/id/eprint/46181/2/Lacombe_RTSguidelines_Recommendations_final.pdfTest; 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

الإتاحة: https://publications.aston.ac.uk/id/eprint/46181Test/
https://publications.aston.ac.uk/id/eprint/46181/1/Lacombe_RTSguidelines_final_version_clean_01-19-2024.pdfTest
https://publications.aston.ac.uk/id/eprint/46181/2/Lacombe_RTSguidelines_Recommendations_final.pdfTest

المؤلفون: Turgut, Gozde Tutku, Altunoglu, Umut, Gulec, Cagri, Sarac Sivrikoz, Tugba, Kalaycı, Tuğba, Toksoy, Guven, Avcı, Şahin, Yıldırım, Behiye Tuğçe, Sayın, Gözde Yeşil, Kalelioglu, Ibrahim Halil, Karaman, Birsen, Has, Recep, Başaran, Seher, Yuksel, Atil, Kayserili, Hülya, Uyguner, Zehra Oya

المصدر: Clinical Genetics ; volume 105, issue 6, page 596-610 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.14490Test

المؤلفون: Lavillaureix, Alinoë, Rollier, Paul, Kim, Artem, Panasenkava, Veranika, De Tayrac, Marie, Carré, Wilfrid, Guyodo, Hélène, Faoucher, Marie, Poirel, Elisabeth, Akloul, Linda, Quelin, Chloe, Whalen, Sandra, Bos, Jessica, Broekema, Marjoleine, van Hagen, Johanna M., Grand, Katheryn, Allen-Sharpley, Michelle, Magness, Emily, McLean, Scott, Kayserili, Hülya, Altunoglu, Umut, En Qi Chong, Angie, Xue, Shifeng, Jeanne, Mederic, Almontashiri, Naif, Habhab, Wisam, Vanlerberghe, Clemence, Faivre, Laurence, Viora Dupont, Eleonore, Philippe, Christophe, Safraou, Hana, Laffargue, Fanny, Mittendorf, Luisa, Abou Jamra, Rami, Patil, Siddaramappa Jagdish, Dalal, Ashwin, Sarma, Asodu Sandeep, Keren, Boris, Reversade, Bruno, Dubourg, Christèle, Odent, Sylvie, Dupé, Valérie

المساهمون: Centre Hospitalier Universitaire de Rennes, ANR

المصدر: Genetics in Medicine ; page 101126 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2024.101126Test
https://api.elsevier.com/content/article/PII:S1098360024000595?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360024000595?httpAccept=text/plainTest

المؤلفون: Wong, Samantha, Tan, Yu Xuan, Loh, Abigail Yi Ting, Tan, Kiat Yi, Lee, Hane, Aziz, Zainab, Nelson, Stanley F., Ozkan, Engin, Kayserili, Hülya, Escande-Beillard, Nathalie, Reversade, Bruno

المصدر: EMBO MOLECULAR MEDICINE 15(5) 15

العلاقة: https://aperta.ulakbim.gov.tr/record/270832Test; oai:aperta.ulakbim.gov.tr:270832

الإتاحة: https://aperta.ulakbim.gov.tr/record/270832Test

المؤلفون: Theil, Arjan F., Pines, Alex, Kalayci, Tuğba, Heredia-Genestar, José M., Raams, Anja, Rietveld, Marion H., Sridharan, Sriram, Tanis, Sabine E.J., Mulder, Klaas W., Büyükbabani, Nesimi, Karaman, Birsen, Uyguner, Zehra O., Kayserili, Hülya, Hoeijmakers, Jan H.J., Lans, Hannes, Demmers, Jeroen A.A., Pothof, Joris, Altunoglu, Umut, El Ghalbzouri, Abdoelwaheb, Vermeulen, Wim

المصدر: Theil , A F , Pines , A , Kalayci , T , Heredia-Genestar , J M , Raams , A , Rietveld , M H , Sridharan , S , Tanis , S E J , Mulder , K W , Büyükbabani , N , Karaman , B , Uyguner , Z O , Kayserili , H , Hoeijmakers , J H J , Lans , H , Demmers , J A A , Pothof , J , Altunoglu , U , El Ghalbzouri , A & Vermeulen , W 2023 , ' Trichothiodystrophy-associated MPLKIP maintains DBR1 levels ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/910117cf-af0e-4458-8bbd-c17e6c3499baTest

الإتاحة: https://doi.org/10.15252/emmm.202317973Test
https://pure.eur.nl/en/publications/910117cf-af0e-4458-8bbd-c17e6c3499baTest
https://pure.eur.nl/ws/files/103701912/Trichothiodystrophy-associated_MPLKIP_maintains_DBR1_levels_for_proper_lariat_debranching_and_ectodermal_differentiation.pdfTest
http://www.scopus.com/inward/record.url?scp=85173491553&partnerID=8YFLogxKTest

المؤلفون: Cain, Corey J, Gaborit, Nathalie, Lwin, Wint, Barruet, Emilie, Ho, Samantha, Bonnard, Carine, Hamamy, Hanan, Shboul, Mohammad, Reversade, Bruno, Kayserili, Hülya, Bruneau, Benoit G, Hsiao, Edward C

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Dental/Oral and Craniofacial Disease, Genetics, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Osteoblast mineralization, Osteoclast/osteoblast biology, Osteoporosis, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8wt509n4Test

المؤلفون: Reversade, Bruno, Escande-Beillard, Nathalie, Dimopoulou, Aikaterini, Fischer, Björn, Chng, Serene C, Li, Yun, Shboul, Mohammad, Tham, Puay-Yoke, Kayserili, Hülya, Al-Gazali, Lihadh, Shahwan, Monzer, Brancati, Francesco, Lee, Hane, O'Connor, Brian D, Kegler, Mareen Schmidt-von, Merriman, Barry, Nelson, Stanley F, Masri, Amira, Alkazaleh, Fawaz, Guerra, Deanna, Ferrari, Paola, Nanda, Arti, Rajab, Anna, Markie, David, Gray, Mary, Nelson, John, Grix, Arthur, Sommer, Annemarie, Savarirayan, Ravi, Janecke, Andreas R, Steichen, Elisabeth, Sillence, David, Haußer, Ingrid, Budde, Birgit, Nürnberg, Gudrun, Nürnberg, Peter, Seemann, Petra, Kunkel, Désirée, Zambruno, Giovanna, Dallapiccola, Bruno, Schuelke, Markus, Robertson, Stephen, Hamamy, Hanan, Wollnik, Bernd, Van Maldergem, Lionel, Mundlos, Stefan, Kornak, Uwe

المصدر: Nature Genetics, 54 (2), 213 (2022-02)

مصطلحات موضوعية: Genetics, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: https://www.nature.com/articles/s41588-022-01013-2.pdfTest; urn:issn:1061-4036; urn:issn:1546-1718

الوصول الحر: https://orbi.uliege.be/handle/2268/301384Test

المؤلفون: Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A., Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B., Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco

المساهمون: Hubrecht Institute with UMC

مصطلحات موضوعية: Molecular Biology, Genetics, Genetics(clinical)

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/447773Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/447773Test