المؤلفون: Lecoquierre, François, Punt, A. Mattijs, Ebstein, Frédéric, Wallaard, Ilse, Verhagen, Rob, Studencka-Turski, Maja, Duffourd, Yannis, Moutton, Sébastien, Tran Mau-Them, Frédédic, Philippe, Christophe, Dean, John, Tennant, Stephen, Brooks, Alice S., van Slegtenhorst, Marjon A., Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, England, Eleina M., Martinez Ojeda, Mayra, Engle, Elizabeth C., Robson, Caroline D., Morrow, Michelle, Innes, A. Micheil, Lamont, Ryan, Sanderson, Matthea, Krüger, Elke, Thauvin, Christel, Distel, Ben, Faivre, Laurence, Elgersma, Ype, Vitobello, Antonio

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المؤلفون: Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Claus, Laura R., Chen, Chuan, Stallworth, Jennifer, Turner, Joshua L., Slaats, Gisela, Hawks, Alexandra L., Mabillard, Holly, Senum, Sarah R., Srikanth, Sujata, Flanagan-Steet, Heather, Louie, Raymond J., Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Sleutels, Frank, van Slegtenhorst, Marjon, van Ham, Tjakko, Brooks, Alice S., Dorresteijn, Eiske M., Barakat, Tahsin Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric Jean, Olinger, Eric, Larsen, Martin, Hertz, Jens Michael, Lilien, Marc R., Obeidová, Lena, Seeman, Tomas, Stone, Hillarey K., Kerecuk, Larissa, Gurgu, Mihai, Yousef Yengej, Fjodor A., Ammerlaan, Carola M.E., Rookmaaker, Maarten B., Hanna, Christian, Rogers, R. Curtis, Duran, Karen, Peters, Edith, Sayer, John A., van Haaften, Gijs, Harris, Peter C., Ling, Kun, Mason, Jennifer M., van Eerde, Albertien M., Steet, Richard

المصدر: In Kidney International July 2023

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المؤلفون: Mancini, Grazia M.S., Smits, Daphne J., Dekker, Jordy, Schot, Rachel, de Wit, Marie Claire Y., Lequin, Maarten H., Dremmen, Marjolein, Brooks, Alice S., van Ham, Tjakko, Verheijen, Frans W., Fornerod, Maarten, Dobyns, William B., Wilke, Martina

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المؤلفون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon

المصدر: Li , D , Wang , Q , Bayat , A , Battig , M R , Zhou , Y , Bosch , D G M , van Haaften , G , Granger , L , Petersen , A K , Pérez-Jurado , L A , Aznar-Laín , G , Aneja , A , Hancarova , M , Bendova , S , Schwarz , M , Pourova , R K , Sedlacek , Z , Keena , B A , March , M E , Hou , C , O’Connor , N , Bhoj , E J , Harr , M H , Lemire , G , Boycott , K M , Towne , M , Li , M , Tarnopolsky , M , Brady , L , Parker , M J , Faghfoury , H , Parsley , L K , Agolini , E , Dentici , M L , Novelli , A , Wright , M , Palmquist , R , Lai , K , Scala , M , Striano , P , Iacomino , M , Zara , F , Cooper , A , Maarup , T J , Byler , M , Lebel , R R , Balci , T B , Louie , R , Lyons , M , Douglas , J , Nowak , C , Afenjar , A , Hoyer , J , Keren , B , Maas , S M , Motazacker , M M , Martinez-Agosto , J A , Rabani , A M , McCormick , E M , Falk , M J , Ruggiero , S M , Helbig , I , Møller , R S , Tessarollo , L , Ardori , F T , Palko , M E , Hsieh , T C , Krawitz , P M , Ganapathi , M , Gelb , B D , Jobanputra , V , Wilson , A , Greally , J , Jacquemont , S , Jizi , K , Bruel , A L , Quelin , C , Misra , V K , Chick , E , Romano , C , Greco , D , Arena , A , Morleo , M , Nigro , V , Seyama , R , Uchiyama , Y , Matsumoto , N , Taira , R , Tashiro , K , Sakai , Y , Yigit , G , Wollnik , B , Wagner , M , Kutsche , B , Hurst , A C E , Thompson , M L , Schmidt , R , Randolph , L , Spillmann , R C , Shashi , V , Higginbotham , E J , Cordeiro , D , Carnevale , A , Costain , G , Khan , T , Funalot , B , Mau-Them , F T , Garcia Moya , L F , García-Miñaúr , S , Osmond , M , Chad , L , Quercia , N , Carrasco , D , Li , C , Sanchez-Valle , A , Kelley , M , Nizon , M , Jensson , B O , Sulem , P , Stefansson , K , Gorokhova , S , Busa , T , Rio , M , Habdallah , H H , Lesieur-Sebellin , M , Amiel , J , Pingault , V , Mercier , S , Vincent , M , Philippe , C , Fatus-Fauconnier , C , Friend , K , Halligan , R K , Biswas , S , Rosser , J , Shoubridge , C , Corbett , M , Barnett , C , Gecz , J , Leppi

مصطلحات الفهرس: article

URL: https://pure.eur.nl/en/publications/88c4a8ca-9fd3-465f-b4a2-f52edc3abaed

المؤلفون: Balasubramanian, Meena^{Aff1, Aff2, IDs41431020007697_cor1}, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia^{Aff7, Aff8}, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E., Ragge, Nicola^{Aff6, Aff11}, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara^{Aff12, Aff13, Aff14}, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie^{Aff20, Aff21}, Isidor, Bertrand^{Aff20, Aff21}, Küry, Sebastien^{Aff20, Aff21}, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M.^{Aff26, Aff27}, Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske

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المؤلفون: Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, de Vries, Bert BA

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مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Pediatric, Neurosciences, Congenital Structural Anomalies, Brain Disorders, Clinical Research, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Adolescent, Adult, Child, Chromosome Deletion, Chromosomes, Human, Pair 17, Female, Humans, Intellectual Disability, Male, Middle Aged, Nuclear Proteins, Phenotype, Polymorphism, Single Nucleotide, DDD Study, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6bw6150r

المؤلفون: Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora^{Aff5, Aff6}, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid^{Aff17, Aff18, Aff19}, Eslahi, Atieh^{Aff17, Aff20}, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor^{Aff23, Aff24}, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza^{Aff36, Aff37}, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan^{Aff39, Aff40}, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan^Aff1

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المؤلفون: Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Care 4 Rare Canada Consortium, Schneidman-Duhovny, Dina^{Aff7, Aff8}, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.^Aff1

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