المؤلفون: Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander JM, Goodman, Sarah J, Siu, Michelle T, Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert BA, Deden, A Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance TRM, Stevens, Servi JC, Vermeulen, Jeroen R, van Harssel, Jeske VT, Bosch, Danielle GM, van Gassen, Koen LI, van Binsbergen, Ellen, de Geus, Christa M, Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M, Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B, Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W, Berry, Ian R, Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M, Radley, Jessica A, Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G, Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata JM, Cohn, Ronald D, Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W, Brunner, Han G, Vissers, Lisenka ELM, Kleefstra, Tjitske, Koolen, David A, Weksberg, Rosanna

المصدر: American Journal of Human Genetics. 108(6)

مصطلحات موضوعية: Genetics, Clinical Research, Brain Disorders, Mental Health, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Adenosine Triphosphatases, Case-Control Studies, Cohort Studies, Craniofacial Abnormalities, DNA Methylation, Epigenesis, Genetic, Female, Genetic Predisposition to Disease, Growth Disorders, Heart Septal Defects, Ventricular, Humans, Infant, Newborn, Male, Mutation, Neurodevelopmental Disorders, Phenotype, DNA methylation signature, Floating-Harbor syndrome, SRCAP, epigenomics, genotype-phenotype correlation, intellectual disability, neurodevelopmental disorders, non-FLHS SRCAP-related NDD, nonsense-mediated decay, speech delay, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/16q9g96p

المؤلفون: Janssen, Anouk E.J., Koeck, Rebekka M., Essers, Rick, Cao, Ping, van Dijk, Wanwisa, Drüsedau, Marion, Meekels, Jeroen, Yaldiz, Burcu, van de Vorst, Maartje, de Koning, Bart, Hellebrekers, Debby M.E.I., Stevens, Servi J.C., Sun, Su Ming, Heijligers, Malou, de Munnik, Sonja A., van Uum, Chris M.J., Achten, Jelle, Hamers, Lars, Naghdi, Marjan, Vissers, Lisenka E.L.M., van Golde, Ron J.T., de Wert, Guido, Dreesen, Jos C.F.M., de Die-Smulders, Christine, Coonen, Edith, Brunner, Han G., van den Wijngaard, Arthur, Paulussen, Aimee D.C., Zamani Esteki, Masoud

المصدر: Janssen , A E J , Koeck , R M , Essers , R , Cao , P , van Dijk , W , Drüsedau , M , Meekels , J , Yaldiz , B , van de Vorst , M , de Koning , B , Hellebrekers , D M E I , Stevens , S J C , Sun , S M , Heijligers , M , de Munnik , S A , van Uum , C M J , Achten , J , Hamers , L , Naghdi , M , Vissers , L E L ....

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/6760e6b0-02ca-4d98-ad6d-38b322030be8
https://doi.org/10.1038/s41467-024-51508-1

المؤلفون: Szakszon, Katalin, Lourenco, Charles Marques, Callewaert, Bert Louis, Geneviève, David, Rouxel, Flavien, Morin, Denis, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Patterson, Wesley G, Louie, Raymond, Pinto e Vairo, Filippo, Klee, Eric, Kaiwar, Charu, Gavrilova, Ralitza H, Agre, Katherine E, Jacquemont, Sebastien, Khadijé, Jizi, Giltay, Jacques, van Gassen, Koen, Mero, Gabriella, Gerkes, Erica, Van Bon, Bregje W, Rinne, Tuula, Pfundt, Rolph, Brunner, Han G, Caluseriu, Oana, Grasshoff, Ute, Kehrer, Martin, Haack, Tobias B, Khelifa, Melik Malek, Bergmann, Anke Katharina, Cueto-González, Anna Maria, Martorell, Ariadna Campos, Ramachandrappa, Shwetha, Sawyer, Lindsey B, Fasel, Pascale, Braun, Dominique, Isis, Atallah, Superti-Furga, Andrea, McNiven, Vanda, Chitayat, David, Ahmed, Syed Anas, Brennenstuhl, Heiko, Schwaibolf, Eva MC, Battisti, Gladys, Parmentier, Benoit, Stevens, Servi J C

مصطلحات موضوعية: Genotype-phenotype correlations

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/61/2/132; http://dx.doi.org/10.1136/jmg-2022-109030

الاتاحة: http://jmg.bmj.com/cgi/content/short/61/2/132
https://doi.org/10.1136/jmg-2022-109030

المؤلفون: Guo, Hui, Bettella, Elisa, Marcogliese, Paul, Zhao, Rongjuan, Andrews, Jonathan, Nowakowski, Tomasz, Gillentine, Madelyn, Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein, van Bon, Bregje, Rinne, Tuula, Stevens, Servi, Kleefstra, Tjitske, Brunner, Han, Yntema, Helger, Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles, Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta, Erwin, Deanna, Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy, Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather, Muir, Alison, Scheffer, Ingrid, Regan, Brigid, Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan, Waisfisz, Quinten, Bijlsma, Emilia, Hoffer, Mariëtte, Ruivenkamp, Claudia, Sartori, Stefano, Xia, Fan, Rosenfeld, Jill, Bernier, Raphael, Wangler, Michael, Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander, Bellen, Hugo, Murgia, Alessandra, Eichler, Evan, Herman, Kristin

المصدر: Nature Communications. 10(1)

مصطلحات موضوعية: Adolescent, Adult, Animals, Autistic Disorder, Behavior, Animal, Brain, Child, Child, Preschool, Craniofacial Abnormalities, Developmental Disabilities, Drosophila Proteins, Drosophila melanogaster, Epilepsy, Female, Humans, Intellectual Disability, Language Development Disorders, Male, Membrane Proteins, Mental Disorders, Muscle Proteins, Mutation, Nerve Tissue Proteins, Neurodevelopmental Disorders, Neuroglia, Neurons, Proteins, Exome Sequencing, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/38k6g99s
https://escholarship.org/content/qt38k6g99s/qt38k6g99s.pdf

المؤلفون: Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, W., Frederix, Geert W.J., Vissers, L. E.L.M., Henneman, L., van Haelst, M. M., Sistermans, E. A., Cornel, M. C., Misra-Isrie, M., Mannens, M. M.A.M., Waisfisz, Q., van Hagen, J. M., Brooks, A. S., Barakat, T. S., Hoefsloot, E. H., van Lingen, R. A., Ruivenkamp, C. A.L., Koene, S., Rutten, J. W., de Koning, B., Stevens, S. J.C., van den Wijngaard, A., Stegmann, A. P.A., Deden, A. C., Rodenburg, W., Sinke, R. J., van der Velde, K. J., Frederix, G. W.J., Oegema, R.

المصدر: on behalf of RADICON-NL consortium , Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , ....

وصف الملف: application/pdf

Relation: https://pure.eur.nl/en/publications/332deff0-c7c2-4a97-938a-ef7ebdefafe3

الاتاحة: https://pure.eur.nl/en/publications/332deff0-c7c2-4a97-938a-ef7ebdefafe3
https://doi.org/10.1007/s00431-023-04909-1
https://pure.eur.nl/ws/files/90570361/Rapid_exome_sequencing_as_a_first_tier_test_in_neonates_with_suspected_genetic_disorder_results_of_a_prospective_multicenter_clinical_utility_study_in_the_Netherlands.pdf
http://www.scopus.com/inward/record.url?scp=85151442453&partnerID=8YFLogxK

المؤلفون: van der Sanden, Bart P G H, Schobers, Gaby, Corominas Galbany, Jordi, Koolen, David A, Sinnema, Margje, van Reeuwijk, Jeroen, Stumpel, Connie T R M, Kleefstra, Tjitske, de Vries, Bert B A, Ruiterkamp-Versteeg, Martina, Leijsten, Nico, Kwint, Michael, Derks, Ronny, Swinkels, Hilde, den Ouden, Amber, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Stegmann, Alexander P, Stevens, Servi J, van den Wijngaard, Arthur, Brunner, Han G, Yntema, Helger G, Gilissen, Christian, Nelen, Marcel R, Vissers, Lisenka E L M

المصدر: van der Sanden , B P G H , Schobers , G , Corominas Galbany , J , Koolen , D A , Sinnema , M , van Reeuwijk , J , Stumpel , C T R M , Kleefstra , T , de Vries , B B A , Ruiterkamp-Versteeg , M , Leijsten , N , Kwint , M , Derks , R , Swinkels , H , den Ouden , A , Pfundt , R , Rinne , T , de Leeuw , N , Stegmann , A P , Stevens , S J , van ....

Relation: https://cris.maastrichtuniversity.nl/en/publications/8b711119-ddf6-4afd-a0af-9c6a976d7640

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/8b711119-ddf6-4afd-a0af-9c6a976d7640
https://doi.org/10.1038/s41431-022-01185-9

المؤلفون: Essers, Rick, Lebedev, Igor N, Kurg, Ants, Fonova, Elizaveta A, Stevens, Servi J C, Koeck, Rebekka M, von Rango, Ulrike, Brandts, Lloyd, Deligiannis, Spyridon Panagiotis, Nikitina, Tatyana V, Sazhenova, Elena A, Tolmacheva, Ekaterina N, Kashevarova, Anna A, Fedotov, Dmitry A, Demeneva, Viktoria V, Zhigalina, Daria I, Drozdov, Gleb V, Al-Nasiry, Salwan, Macville, Merryn V E, van den Wijngaard, Arthur, Dreesen, Jos, Paulussen, Aimee, Hoischen, Alexander, Brunner, Han G, Salumets, Andres, Zamani Esteki, Masoud

المصدر: Essers , R , Lebedev , I N , Kurg , A , Fonova , E A , Stevens , S J C , Koeck , R M , von Rango , U , Brandts , L , Deligiannis , S P , Nikitina , T V , Sazhenova , E A , Tolmacheva , E N , Kashevarova , A A , Fedotov , D A , Demeneva , V V , Zhigalina , D I , Drozdov , G V , Al-Nasiry , S , Macville , M V E , van den Wijngaard , A , ....

Relation: https://cris.maastrichtuniversity.nl/en/publications/9f6723fd-ce46-4ce1-b2a8-c32cf95832a0

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/9f6723fd-ce46-4ce1-b2a8-c32cf95832a0
https://doi.org/10.1038/s41591-023-02645-5

المؤلفون: Delanne, Julian, Lecat, Magaly, Blackburn, Patrick R., Klee, Eric W., Stumpel, Constance T.R.M., Stegmann, Sander, Stevens, Servi J.C., Nava, Caroline, Heron, Delphine, Keren, Boris, Mahida, Sonal, Naidu, Sakkubai, Babovic-Vuksanovic, Dusica, Herkert, Johanna C., Torring, Pernille M., Kibæk, Maria, De Bie, Isabelle, Pfundt, Rolph, Hendriks, Yvonne M.C., Ousager, Lilian Bomme, Bend, Renee, Warren, Hannah, Skinner, Steven A., Lyons, Michael J., Pöe, Charlotte, Chevarin, Martin, Jouan, Thibaud, Garde, Aurore, Thomas, Quentin, Kuentz, Paul, Tisserant, Emilie, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel

المصدر: Delanne , J , Lecat , M , Blackburn , P R , Klee , E W , Stumpel , C T R M , Stegmann , S , Stevens , S J C , Nava , C , Heron , D , Keren , B , Mahida , S , Naidu , S , Babovic-Vuksanovic , D , Herkert , J C , Torring , P M , Kibæk , M , De Bie , I , Pfundt , R , Hendriks , Y M C , Ousager , L B , Bend , R , Warren , ....

مصطلحات موضوعية: BRWD3, Intellectual disability, Macrocephaly, Obesity

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/896f887a-c71a-44dd-b14b-5b9640c1d167
https://research.rug.nl/en/publications/896f887a-c71a-44dd-b14b-5b9640c1d167
https://doi.org/10.1016/j.ejmg.2022.104670
https://pure.rug.nl/ws/files/845134090/Further_clinical_and_molecular_characterization_of_an_XLID_syndrome_associated_with_BRWD3_variants_a_gene_implicated_in_the_leukemia-related_JAK-STAT_pathway.pdf
http://www.scopus.com/inward/record.url?scp=85144054120&partnerID=8YFLogxK

المؤلفون: Faas, Brigitte H. W., Westra, Dineke, de Munnik, Sonja A., van Rij, Maartje, Marcelis, Carlo, Joosten, Sara, Krapels, Ingrid, Vernimmen, Vivian, Heijligers, Malou, Willemsen, Marjolein H., de Leeuw, Nicole, Rinne, Tuula, Pfundt, Rolph, Smeekens, Sanne P., Stegmann, Sander P. A., Macville, Merryn, Sikkel, Esther, Coumans, Audrey, Wijnberger, Lia, Derks, Irma, van Lent‐Albrechts, Josefa, Hofste, Tom, Timmermans, Raoul, van den End, Janneke, Stevens, Servi J. C., Feenstra, Ilse

المصدر: Prenatal Diagnosis ; volume 43, issue 4, page 527-543 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/pd.6314
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6314
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/pd.6314
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6314

المؤلفون: Boone, Philip, Faour, Kamli, Mohajeri, Kiana, Lemanski, John, Jana, Bimal, Fu, Jack, Kerkhof, Jennifer, McConkey, Haley, Collins, Ryan, Lucente, Diane, de Esch, Celine, Moysés-Oliveira, Mariana, Nuttle, Alexander, Domingo, Aloysius, Erdin, Serkan, Hanley, Maris, Watt, Amy, Surette, Eric, Lima, Gloria, Smith, Laura, Salani, Monica, Yadav, Rachita, Harripaul, Ricardo, O’Keefe, Kathryn, Burt, Nicholas, Larson, Matthew, Bhavsar, Riya, Currall, Benjamin, Sell, Susan, Ladda, Roger, Immken, LaDonna, Buchanan, Catherine, Yuan, Bo, Lynch, Sally, Gilissen, Christian, Pfundt, Rolph, Ockeloen, Charlotte, Kleefstra, Tjitske, Vanhoutte, Els, Sinnema, Margje, Stegmann, Sander, Stevens, Servi, Iascone, Maria, Maitz, Silvia, Cogne, Benjamin, Le Caignec, Cedric, Vincent, Marie, Nizon, Mathilde, Male, Alison, Agrawal, Pankaj

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100188 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100188
https://api.elsevier.com/content/article/PII:S2949774423001887?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423001887?httpAccept=text/plain

المؤلفون: Janssen, Anouk E. J., Koeck, Rebekka M., Essers, Rick, Cao, Ping, van Dijk, Wanwisa, Drüsedau, Marion, Meekels, Jeroen, Yaldiz, Burcu, van de Vorst, Maartje, de Koning, Bart, Hellebrekers, Debby M. E. I., Stevens, Servi J. C., Sun, Su Ming, Heijligers, Malou, de Munnik, Sonja A., van Uum, Chris M. J., Achten, Jelle, Hamers, Lars, Naghdi, Marjan, Vissers, Lisenka E. L. M.

المصدر: Nature Communications; 9/2/2024, Vol. 15 Issue 1, p1-15, 15p

مصطلحات موضوعية: GENETIC testing, GENETIC variation, SINGLE nucleotide polymorphisms, NUCLEAR DNA, WHOLE genome sequencing

المؤلفون: Kim, Jung-Hyun, Shinde, Deepali N, Reijnders, Margot RF, Hauser, Natalie S, Belmonte, Rebecca L, Wilson, Gregory R, Bosch, Daniëlle GM, Bubulya, Paula A, Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K, Park, Eun Young, Veltman, Joris A, Sinnema, Margje, Stumpel, Connie TRM, Draaisma, Jos M, Nicolai, Joost, Genomics, University of Washington Center for Mendelian, Yntema, Helger G, Lindstrom, Kristin, de Vries, Bert BA, Jewett, Tamison, Santoro, Stephanie L, Vogt, Julie, Study, Deciphering Developmental Disorders, Bachman, Kristine K, Seeley, Andrea H, Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M, Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A, Behunova, Jana, Rehder, Helga, Gordon, Christopher T, Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T, McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander PA, Stevens, Servi JC, Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G, Brunner, Han G, Mancini, Grazia M, Myers, Richard M, Owen, Laurie B, Lim, Ssang-Taek, Stachura, David L, Vissers, Lisenka ELM, Ahn, Eun-Young Erin

المصدر: American Journal of Human Genetics. 99(3)

مصطلحات موضوعية: Brain Disorders, Congenital Structural Anomalies, Neurosciences, Mental Health, Clinical Research, Genetics, Pediatric, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Congenital, Animals, Brain, DNA-Binding Proteins, Developmental Disabilities, Eye Abnormalities, Female, Genes, Essential, Haploinsufficiency, Head, Heterozygote, Humans, Intellectual Disability, Male, Metabolic Diseases, Minor Histocompatibility Antigens, Mutation, Pedigree, RNA Splicing, RNA, Messenger, Spine, Syndrome, Zebrafish, University of Washington Center for Mendelian Genomics, Deciphering Developmental Disorders Study, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

URL الوصول: https://escholarship.org/uc/item/27g3h88z

المؤلفون: van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert Jan H.

المصدر: The Dutch NIPT Consortium , van Prooyen Schuurman , L , Sistermans , E A , Van Opstal , D , Henneman , L , Bekker , M N , Bax , C J , Pieters , M J , Bouman , K , de Munnik , S , den Hollander , N S , Diderich , K E M , Faas , B H W , Feenstra , I , Go , A T J I , Hoffer , M J V , Joosten , M , Komdeur , F L , Lichtenbelt , K D , Lombardi ....

الاتاحة: https://hdl.handle.net/11370/7d5eae57-7f84-4a3c-b7f3-ad8bdd465c7c
https://research.rug.nl/en/publications/7d5eae57-7f84-4a3c-b7f3-ad8bdd465c7c
https://doi.org/10.1016/j.ajhg.2022.06.003
http://www.scopus.com/inward/record.url?scp=85133740743&partnerID=8YFLogxK

المؤلفون: Kayumi, Sayaka, Pérez-Jurado, Luis A, Palomares, María, Rangu, Sneha, Sheppard, Sarah E, Chung, Wendy K, Kruer, Michael C, Kharbanda, Mira, Amor, David J, McGillivray, George, Cohen, Julie S, García-Miñaúr, Sixto, van Eyk, Clare L, Harper, Kelly, Jolly, Lachlan A, Webber, Dani L, Barnett, Christopher P, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela Del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A, Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R, Bhoj, Elizabeth J, Li, Dong, Ortiz-Gonzalez, Xilma R, Keena, Beth, Zackai, Elaine H, Goldberg, Ethan M, Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L, Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E, Stegmann, Alexander P A, Sinnema, Margje, Stevens, Servi C J, Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W, Procopio, Rebecca A, Millan, Francisca, Morrow, Michelle M, Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J, Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H, Gecz, Jozef, Corbett, Mark A

المساهمون: Genetica Klinische Genetica, Brain

مصطلحات موضوعية: Autism, Cerebral palsy, Familial exudative vitreoretinopathy, Microcephaly, Wnt beta catenin signaling pathway, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/447367

الاتاحة: https://dspace.library.uu.nl/handle/1874/447367

المؤلفون: Stevens, Servi J.C., Stumpel, Constance T.R.M., Diderich, Karin E.M., van Slegtenhorst, Marjon A., Abbott, Mary Alice, Manning, Courtney, Balciuniene, Jorune, Pyle, Louise C., Leonard, Jacqueline, Murrell, Jill R., van de Putte, Romy, van Rooij, Iris A.L.M., Hoischen, Alexander, Lasko, Paul, Brunner, Han G.

المصدر: Stevens , S J C , Stumpel , C T R M , Diderich , K E M , van Slegtenhorst , M A , Abbott , M A , Manning , C , Balciuniene , J , Pyle , L C , Leonard , J , Murrell , J R , van de Putte , R , van Rooij , I A L M , Hoischen , A , Lasko , P & Brunner , H G 2022 , ' The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/92f352f4-7060-4769-9642-563ecb87bfb0
https://doi.org/10.1111/cge.14076
https://pure.eur.nl/ws/files/46162914/The_broader_phenotypic_spectrum_of_congenital_caudal_abnormalities_associated_with_mutations_in_the_caudal_type_homeobox_2_gene.pdf
http://www.scopus.com/inward/record.url?scp=85117949740&partnerID=8YFLogxK

المؤلفون: Heesterbeek, Catharina J., Aukema, Sietse M., Galjaard, Robert Jan H., Boon, Elles M.J., Srebniak, Malgorzata I., Bouman, Katelijne, Faas, Brigitte H.W., Govaerts, Lutgarde C.P., Hoffer, Mariëtte J.V., Den Hollander, Nicolette S., Lichtenbelt, Klaske D., Van Maarle, Merel C., Van Prooyen Schuurman, Lisanne, Van Rij, Maartje C., Schuring-Blom, G. Heleen, Stevens, Servi J.C., Tan-Sindhunata, Gita, Zamani Esteki, Masoud, De Die-Smulders, Christine E.M., Tjan-Heijnen, Vivianne C.G., Henneman, Lidewij, Sistermans, Erik A., MacVille, Merryn V.E.

المصدر: Heesterbeek , C J , Aukema , S M , Galjaard , R J H , Boon , E M J , Srebniak , M I , Bouman , K , Faas , B H W , Govaerts , L C P , Hoffer , M J V , Den Hollander , N S , Lichtenbelt , K D , Van Maarle , M C , Van Prooyen Schuurman , L , Van Rij , M C , Schuring-Blom , G H , Stevens , S J C , Tan-Sindhunata , G , Zamani Esteki , M , De ....

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

الاتاحة: https://pure.eur.nl/en/publications/f370e7a4-333c-46ca-9271-4f48a327d707
https://doi.org/10.1200/JCO.21.02260
http://www.scopus.com/inward/record.url?scp=85130971504&partnerID=8YFLogxK
https://hdl.handle.net/11370/b9858dcd-c6ac-42ea-80ee-5ac7418f4648

المؤلفون: van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert Jan H.

المصدر: van Prooyen Schuurman , L , Sistermans , E A , the Dutch NIPT Consortium , Van Opstal , D , Henneman , L , Bekker , M N , Bax , C J , Pieters , M J , Bouman , K , de Munnik , S , den Hollander , N S , Diderich , K E M , Faas , B H W , Feenstra , I , Go , A T J I , Hoffer , M J V , Joosten , M , Komdeur , F L , Lichtenbelt , K D , Lombardi ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/846a92fd-35eb-4c34-a6d9-e143e542e9f1
https://doi.org/10.1016/j.ajhg.2022.04.018
https://pure.eur.nl/ws/files/61779315/Clinical_impact_of_additional_findings_detected_by_genome_wide_non_invasive_prenatal_testing.pdf
http://www.scopus.com/inward/record.url?scp=85131101786&partnerID=8YFLogxK

المؤلفون: van Dijk, Wanwisa, Derks, Kasper, Drüsedau, Marion, Meekels, Jeroen, Koeck, Rebekka, Essers, Rick, Dreesen, Joseph, Coonen, Edith, de Die-Smulders, Christine, Stevens, Servi J C, Brunner, Han G, van den Wijngaard, Arthur, Paulussen, Aimée D C, Zamani Esteki, Masoud

المصدر: van Dijk , W , Derks , K , Drüsedau , M , Meekels , J , Koeck , R , Essers , R , Dreesen , J , Coonen , E , de Die-Smulders , C , Stevens , S J C , Brunner , H G , van den Wijngaard , A , Paulussen , A D C & Zamani Esteki , M 2022 , ' Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing ' , Human Reproduction , vol. 37 , no. 11 , pp. 2700-2708 . https://doi.org/10.1093/humrep/deac208

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/7a1a69e9-9ff6-4652-befe-52a0e3a9a5ee
https://doi.org/10.1093/humrep/deac208

المؤلفون: Schobers, Gaby, Koeck, Rebekka, Pellaers, Dominique, Stevens, Servi J C, Macville, Merryn V E, Paulussen, Aimée D C, Coonen, Edith, van den Wijngaard, Arthur, de Die-Smulders, Christine, de Wert, Guido, Brunner, Han G, Zamani Esteki, Masoud

المصدر: Schobers , G , Koeck , R , Pellaers , D , Stevens , S J C , Macville , M V E , Paulussen , A D C , Coonen , E , van den Wijngaard , A , de Die-Smulders , C , de Wert , G , Brunner , H G & Zamani Esteki , M 2021 , ' Liquid biopsy : state of reproductive medicine and beyond ' , Human Reproduction , vol. 36 , no. 11 , pp. 2824-2839 . https://doi.org/10.1093/humrep/deab206

مصطلحات موضوعية: Artificial Intelligence, Biomarkers, Tumor, Biopsy, Cell-Free Nucleic Acids, Humans, Liquid Biopsy, Neoplasms, Reproductive Medicine, preimplantation genetic testing, ART, EMBRYO CULTURE-MEDIUM, INCIDENTAL DETECTION, NONINVASIVE PRENATAL-DIAGNOSIS, MATERNAL PLASMA, GENE-EXPRESSION, GENOMIC DNA, CELL-FREE DNA, non-invasive prenatal testing, circulating cells, next generation sequencing, MITOCHONDRIAL-DNA, FREE FETAL DNA, CIRCULATING TUMOR-CELLS, spent embryo culture medium, IVF

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/1e7a67ee-5994-4b27-ab2e-cc5241a113b0
https://doi.org/10.1093/humrep/deab206

المؤلفون: Bryant, Laura, Li, Dong, Cox, Samuel, G, Marchione, Dylan, Joiner, Evan, F, Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael, E, Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas, J, Wadley, Alexandrea, Mancini, Grazia, M S, Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather, P, Powis, Zoe, Cho, Megan, T, Willing, Marcia, C, Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia, B, Retterer, Kyle, Schuette, Jane, L, Innis, Jeffrey, W, Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim, M, Monaghan, Kristin, G, Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer, A, Lyons, Michael, J, Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine, L, Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica, H, Õunap, Katrin, Ilves, Pilvi, Innes, A. Micheil, Kernohan, Kristin, D, Costain, Gregory, Meyn, M. Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin, Martinez-Agosto, Julian, A, Nelson, Stan, F, Palmer, Christina, G S, Papp, Jeanette, C, Parker, Neil, H, Sinsheimer, Janet, S, Vilain, Eric, Wan, Jijun, Yoon, Amanda, J, Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan, M, Gotway, Garrett, Stuurman, K, E, Thompson, Michelle, L, Mcwalter, Kirsty, Stumpel, Constance, T R M, Stevens, Servi, J C, Stegmann, Alexander, P A, Tveten, Kristian, Vøllo, Arve, Prescott, Trine, Fagerberg, Christina, Laulund, Lone Walentin, Larsen, Martin, J, Byler, Melissa, Lebel, Robert Roger, Hurst, Anna, C, Dean, Joy, Schrier Vergano, Samantha, A, Norman, Jennifer, Mercimek-Andrews, Saadet, Neira, Juanita, van Allen, Margot, I, Longo, Nicola, Sellars, Elizabeth, Louie, Raymond, J, Cathey, Sara, S, Brokamp, Elly, Heron, Delphine, Snyder, Molly, Vanderver, Adeline, Simon, Celeste, de la Cruz, Xavier, Padilla, Natália, Crump, J. Gage, Chung, Wendy, Garcia, Benjamin, Hakonarson, Hakon, H, Bhoj, Elizabeth, J

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut du Thorax Nantes, ANR-16-IDEX-0007,NExT (I-SITE),NExT (I-SITE)(2016)

المصدر: ISSN: 2375-2548 ; Science Advances ; https://hal.sorbonne-universite.fr/hal-04504898 ; Science Advances , 2020, 6 (49), ⟨10.1126/sciadv.abc9207⟩.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/33268356; PUBMED: 33268356; PUBMEDCENTRAL: PMC7821880

الاتاحة: https://hal.sorbonne-universite.fr/hal-04504898
https://hal.sorbonne-universite.fr/hal-04504898v1/document
https://hal.sorbonne-universite.fr/hal-04504898v1/file/sciadv.abc9207.pdf
https://doi.org/10.1126/sciadv.abc9207