المؤلفون: Dunnen,den, Johan T., Onderzoeker, Dalgleish, Raymond, Onderzoeker, Maglott, Donna R., Onderzoeker, Hart, Reece K., Onderzoeker, Greenblatt, Marc S., Onderzoeker, McGowan-Jordan, Jean, Onderzoeker, Roux, Anne-Francoise, Onderzoeker, Smith, Timothy, Onderzoeker, Antonarakis, Stylianos E., Onderzoeker, Taschner, Peter, Lector

المساهمون: Genome-based Health, Hogeschool Leiden@@@Faculteit Techniek

المصدر: Human Mutation. Volume 37(issue 6, Special Issue: 25 Years of Discovery in Human Genetics):564-569

مصطلحات موضوعية: standards, sequence variation, mutation, database, nomenclature

الوصول الحر: https://surfsharekit.nl/public/6977cc54-d516-4239-886a-8738f0a9b0abTest
https://surfsharekit.nl/objectstore/30a9fdd2-bcdb-4759-99cf-4ffe2dd46374Test

الإتاحة: http://www.hbo-kennisbank.nl/en/page/hborecord.view/?uploadId=sharekit_hsleiden:oai:surfsharekit.nl:6977cc54-d516-4239-886a-8738f0a9b0abTest

المؤلفون: Nurk, Sergey, Koren, Sergey, Rhie, Arang, Rautiainen, Mikko, Bzikadze, Andrey V, Mikheenko, Alla, Vollger, Mitchell R, Altemose, Nicolas, Uralsky, Lev, Gershman, Ariel, Aganezov, Sergey, Hoyt, Savannah J, Diekhans, Mark, Logsdon, Glennis A, Alonge, Michael, Antonarakis, Stylianos E, Borchers, Matthew, Bouffard, Gerard G, Brooks, Shelise Y, Caldas, Gina V, Chen, Nae-Chyun, Cheng, Haoyu, Chin, Chen-Shan, Chow, William, de Lima, Leonardo G, Dishuck, Philip C, Durbin, Richard, Dvorkina, Tatiana, Fiddes, Ian T, Formenti, Giulio, Fulton, Robert S, Fungtammasan, Arkarachai, Garrison, Erik, Grady, Patrick GS, Graves-Lindsay, Tina A, Hall, Ira M, Hansen, Nancy F, Hartley, Gabrielle A, Haukness, Marina, Howe, Kerstin, Hunkapiller, Michael W, Jain, Chirag, Jain, Miten, Jarvis, Erich D, Kerpedjiev, Peter, Kirsche, Melanie, Kolmogorov, Mikhail, Korlach, Jonas, Kremitzki, Milinn, Li, Heng, Maduro, Valerie V, Marschall, Tobias, McCartney, Ann M, McDaniel, Jennifer, Miller, Danny E, Mullikin, James C, Myers, Eugene W, Olson, Nathan D, Paten, Benedict, Peluso, Paul, Pevzner, Pavel A, Porubsky, David, Potapova, Tamara, Rogaev, Evgeny I, Rosenfeld, Jeffrey A, Salzberg, Steven L, Schneider, Valerie A, Sedlazeck, Fritz J, Shafin, Kishwar, Shew, Colin J, Shumate, Alaina, Sims, Ying, Smit, Arian FA, Soto, Daniela C, Sović, Ivan, Storer, Jessica M, Streets, Aaron, Sullivan, Beth A, Thibaud-Nissen, Françoise, Torrance, James, Wagner, Justin, Walenz, Brian P, Wenger, Aaron, Wood, Jonathan MD, Xiao, Chunlin, Yan, Stephanie M, Young, Alice C, Zarate, Samantha, Surti, Urvashi, McCoy, Rajiv C, Dennis, Megan Y, Alexandrov, Ivan A, Gerton, Jennifer L, O’Neill, Rachel J, Timp, Winston, Zook, Justin M, Schatz, Michael C, Eichler, Evan E, Miga, Karen H, Phillippy, Adam M

المصدر: Science. 376(6588)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Cell Line, Chromosomes, Artificial, Bacterial, Chromosomes, Human, Genome, Human, Human Genome Project, Humans, Reference Values, Sequence Analysis, DNA, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4hh2h517Test
https://escholarship.org/content/qt4hh2h517/qt4hh2h517.pdfTest

المؤلفون: Zhao, Yingjie, Diacou, Alexander, Johnston, H Richard, Musfee, Fadi I, McDonald-McGinn, Donna M, McGinn, Daniel, Crowley, T Blaine, Repetto, Gabriela M, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R, Kates, Wendy R, Digilio, M Cristina, Unolt, Marta, Marino, Bruno, Pontillo, Maria, Armando, Marco, Di Fabio, Fabio, Vicari, Stefano, van den Bree, Marianne, Moss, Hayley, Owen, Michael J, Murphy, Kieran C, Murphy, Clodagh M, Murphy, Declan, Schoch, Kelly, Shashi, Vandana, Tassone, Flora, Simon, Tony J, Shprintzen, Robert J, Campbell, Linda, Philip, Nicole, Heine-Suñer, Damian, García-Miñaúr, Sixto, Fernández, Luis, Consortium, International 22q11 2 Brain and Behavior, Antonarakis, Stylianos E, Biondi, Massimo, Boot, Erik, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Buzzanca, Antonino, Carmel, Miri, Cleynen, Isabelle, Cutler, David, Dallapiccola, Bruno, de la Fuente Sanches, María Angeles, Epstein, Michael P, Evers, Rens, Fernandez, Luis, Fritsch, Rosemarie, Algas, Fernando García, Guo, Tingwei, Gur, Raquel, Hestand, Matthew S, Heung, Tracy, Hooper, Stephen, Jin, Andrea, Kushan-Wells, Leila, Laorden-Nieto, Alejandra Teresa, Lattanzi, Guido, Marshall, Christian, McCabe, Kathryn, Michaelovsky, Elena, Ornstein, Claudia, Silversides, Candice, Tran, Oanh, van Duin, Esther DA, Vergaelen, Elfi, Warren, Steve T, Weinberger, Ronnie, Weizman, Abraham, Zhang, Zhengdong, Zwick, Michael, Bearden, Carrie E, Vingerhoets, Claudia, van Amelsvoort, Therese, Eliez, Stephan, Schneider, Maude, Vorstman, Jacob AS, Gothelf, Doron, Zackai, Elaine, Agopian, AJ, Gur, Raquel E, Bassett, Anne S, Emanuel, Beverly S, Goldmuntz, Elizabeth, Mitchell, Laura E, Wang, Tao, Morrow, Bernice E

المصدر: American Journal of Human Genetics. 106(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Clinical Research, Human Genome, Heart Disease, Cardiovascular, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Case-Control Studies, Chromosome Deletion, Chromosomes, Human, Pair 22, Cohort Studies, Female, Genome-Wide Association Study, Heart Defects, Congenital, Humans, Linkage Disequilibrium, Male, Phenotype, Polymorphism, Single Nucleotide, Proto-Oncogene Mas, Segmental Duplications, Genomic, International 22q11.2 Brain and Behavior Consortium, CRKL, DiGeorge syndrome, TBX1, chromosome 22q11.2 deletion syndrome, complex trait, congenital heart disease, conotruncal heart defects, copy number variation, genetic association, genetic modifier, haploinsufficiency, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/38b9f8cxTest

المؤلفون: Hiatt, Susan M., Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E. Christopher, Abidi, Fatima E., Anderson, Ashlyn, Ansar, Muhammad, Antonarakis, Stylianos E., Azadi, Azadeh, Bachmann-Gagescu, Ruxandra, Bartuli, Andrea, Benech, Caroline, Berkowitz, Jennifer L., Betti, Michael J., Brusco, Alfredo, Cannon, Ashley, Caron, Giulia, Chen, Yanmin, Cochran, Meagan E., Coleman, Tanner F., Crenshaw, Molly M., Cuisset, Laurence, Curry, Cynthia J., Darvish, Hossein, Demirdas, Serwet, Descartes, Maria, Douglas, Jessica, Dyment, David A., Elloumi, Houda Zghal, Ermondi, Giuseppe, Faoucher, Marie, Farrow, Emily G., Felker, Stephanie A., Fisher, Heather, Hurst, Anna C. E., Joset, Pascal, Kelly, Melissa A., Kmoch, Stanislav, Leadem, Benjamin R., Lyons, Michael J., Macchiaiolo, Marina, Magner, Martin, Mandrile, Giorgia, Mattioli, Francesca, McEown, Megan, Meadows, Sarah K., Medne, Livija, Meeks, Naomi J. L., Montgomery, Sarah, Napier, Melanie P., Natowicz, Marvin, Newberry, Kimberly M., Niceta, Marcello, Noskova, Lenka, Nowak, Catherine B., Noyes, Amanda G., Osmond, Matthew, Prijoles, Eloise J., Pugh, Jada, Pullano, Verdiana, Quélin, Chloé, Rahimi-Aliabadi, Simin, Rauch, Anita, Redon, Sylvia, Reymond, Alexandre, Schwager, Caitlin R., Sellars, Elizabeth A., Scheuerle, Angela E., Shukarova-Angelovska, Elena, Skraban, Cara, Stolerman, Elliot, Sullivan, Bonnie R., Tartaglia, Marco, Thiffault, Isabelle, Uguen, Kevin, Umaña, Luis A., van Bever, Yolande, van der Crabben, Saskia N., van Slegtenhorst, Marjon A., Waisfisz, Quinten, Washington, Camerun, Rodan, Lance H., Myers, Richard M., Cooper, Gregory M.

المصدر: Hiatt , S M , Trajkova , S , Sebastiano , M R , Partridge , E C , Abidi , F E , Anderson , A , Ansar , M , Antonarakis , S E , Azadi , A , Bachmann-Gagescu , R , Bartuli , A , Benech , C , Berkowitz , J L , Betti , M J , Brusco , A , Cannon , A , Caron , G , Chen , Y , Cochran , M E , Coleman , T F , Crenshaw , M M , Cuisset , L , Curry ....

العلاقة: https://research.vumc.nl/en/publications/485b39d6-98d0-45cd-9fc1-3a67cf49ad1eTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.12.007Test
https://research.vumc.nl/en/publications/485b39d6-98d0-45cd-9fc1-3a67cf49ad1eTest
http://www.scopus.com/inward/record.url?scp=85147457278&partnerID=8YFLogxKTest

المؤلفون: Serey-Gaut, Margaux, Cortes, Marisol, Makrythanasis, Periklis, Suri, Mohnish, Taylor, Alexander M.R., Sullivan, Jennifer A., Asleh, Ayat N., Mitra, Jaba, Dar, Mohamad A., McNamara, Amy, Shashi, Vandana, Dugan, Sarah, Song, Xiaofei, Rosenfeld, Jill A., Cabrol, Christelle, Iwaszkiewicz, Justyna, Zoete, Vincent, Pehlivan, Davut, Akdemir, Zeynep Coban, Roeder, Elizabeth R., Littlejohn, Rebecca Okashah, Dibra, Harpreet K., Byrd, Philip J., Stewart, Grant S., Geckinli, Bilgen B., Posey, Jennifer, Westman, Rachel, Jungbluth, Chelsy, Eason, Jacqueline, Sachdev, Rani, Evans, Carey-Anne, Lemire, Gabrielle, VanNoy, Grace E., O’Donnell-Luria, Anne, Mau-Them, Frédéric Tran, Juven, Aurélien, Piard, Juliette, Nixon, Cheng Yee, Zhu, Ying, Ha, Taekjip, Buckley, Michael F., Thauvin, Christel, Essien Umanah, George K., Van Maldergem, Lionel, Lupski, James R., Roscioli, Tony, Dawson, Valina L., Dawson, Ted M., Antonarakis, Stylianos E.

المساهمون: Chrest Foundation, National Institutes of Health, Baylor-Hopkins Center for Mendelian Genomics, National Heart, Lung, and Blood Institute, Cancer Research UK, National Human Genome Research Institute, European Research Council, National Health and Medical Research Council, National Institute of Neurological Disorders and Stroke, National Eye Institute

المصدر: The American Journal of Human Genetics ; volume 110, issue 3, page 499-515 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.01.006Test
https://api.elsevier.com/content/article/PII:S000292972300006X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292972300006X?httpAccept=text/plainTest

المؤلفون: Mattioli, Francesca, Worpenberg, Lina, Li, Cai-Tao, Ibrahim, Nazia, Naz, Shagufta, Sharif, Saima, Firouzabadi, Saghar G., Vosoogh, Shohreh, Saraeva-Lamri, Radoslava, Raymond, Laure, Trujillo, Carlos, Guex, Nicolas, Antonarakis, Stylianos E., Ansar, Muhammad, Darvish, Hossein, Liu, Ru-Juan, Roignant, Jean-Yves, Reymond, Alexandre

المساهمون: National Natural Science Foundation of China, National Key Research and Development Program of China Stem Cell and Translational Research, Jérôme Lejeune Foundation, Lahore College for Women University, Swiss National Science Foundation

المصدر: Genetics in Medicine ; volume 25, issue 9, page 100900 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.100900Test
https://api.elsevier.com/content/article/PII:S1098360023009139?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023009139?httpAccept=text/plainTest

المؤلفون: Jolly, Angad, Du, Haowei, Borel, Christelle, Chen, Na, Zhao, Sen, Grochowski, Christopher M., Duan, Ruizhi, Fatih, Jawid M., Dawood, Moez, Salvi, Sejal, Jhangiani, Shalini N., Muzny, Donna M., Koch, André, Rouskas, Konstantinos, Glentis, Stavros, Deligeoroglou, Efthymios, Bacopoulou, Flora, Wise, Carol A., Dietrich, Jennifer E., Van den Veyver, Ignatia B., Dimas, Antigone S., Brucker, Sara, Sutton, V. Reid, Gibbs, Richard A., Antonarakis, Stylianos E., Wu, Nan, Coban-Akdemir, Zeynep H., Zhu, Lan, Posey, Jennifer E., Lupski, James R.

المصدر: Human Genetics and Genomics Advances ; volume 4, issue 3, page 100188 ; ISSN 2666-2477

مصطلحات موضوعية: Genetics (clinical), Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.xhgg.2023.100188Test
https://api.elsevier.com/content/article/PII:S2666247723000209?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666247723000209?httpAccept=text/plainTest

المؤلفون: Miranda, Andre M, Herman, Mathieu, Cheng, Rong, Nahmani, Eden, Barrett, Geoffrey, Micevska, Elizabeta, Fontaine, Gaelle, Potier, Marie-Claude, Head, Elizabeth, Schmitt, Frederick A, Lott, Ira T, Jiménez-Velázquez, Ivonne Z, Antonarakis, Stylianos E, Di Paolo, Gilbert, Lee, Joseph H, Hussaini, S Abid, Marquer, Catherine

المصدر: Cell Reports. 23(10)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Dementia, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Alzheimer's Disease, Aging, Neurosciences, Brain Disorders, Neurodegenerative, Genetics, Aetiology, 2.1 Biological and endogenous factors, Neurological, Alzheimer Disease, Animals, Cognition Disorders, Haplotypes, Hippocampus, Memory Disorders, Mice, Inbred C57BL, Mice, Transgenic, Mutant Proteins, Nerve Tissue Proteins, Phosphoric Monoester Hydrolases, Place Cells, Polymorphism, Single Nucleotide, Synapses, Long-term memory, SYNJ1, hyperexcitability, in vivo electrophysiology, neurodegenerative disorders, single nucleotide polymorphisms, synaptic dysfunction, Medical Physiology, Biological sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/21g5j1gbTest

المؤلفون: Guo, Tingwei, Repetto, Gabriela M, McDonald McGinn, Donna M, Chung, Jonathan H, Nomaru, Hiroko, Campbell, Christopher L, Blonska, Anna, Bassett, Anne S, Chow, Eva WC, Mlynarski, Elisabeth E, Swillen, Ann, Vermeesch, Joris, Devriendt, Koen, Gothelf, Doron, Carmel, Miri, Michaelovsky, Elena, Schneider, Maude, Eliez, Stephan, Antonarakis, Stylianos E, Coleman, Karlene, Tomita-Mitchell, Aoy, Mitchell, Michael E, Digilio, M Cristina, Dallapiccola, Bruno, Marino, Bruno, Philip, Nicole, Busa, Tiffany, Kushan-Wells, Leila, Bearden, Carrie E, Piotrowicz, Małgorzata, Hawuła, Wanda, Roberts, Amy E, Tassone, Flora, Simon, Tony J, van Duin, Esther DA, van Amelsvoort, Thérèse A, Kates, Wendy R, Zackai, Elaine, Johnston, H Richard, Cutler, David J, Agopian, AJ, Goldmuntz, Elizabeth, Mitchell, Laura E, Wang, Tao, Emanuel, Beverly S, Morrow, Bernice E

المصدر: Circulation Genomic and Precision Medicine. 10(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Genetics, Rare Diseases, Congenital Structural Anomalies, Clinical Research, Human Genome, Heart Disease, Cardiovascular, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Chromatin, Chromosomes, Human, Pair 5, DiGeorge Syndrome, Genetic Loci, Genome-Wide Association Study, Genotype, High-Throughput Nucleotide Sequencing, Humans, Linkage Disequilibrium, MEF2 Transcription Factors, Oligonucleotide Array Sequence Analysis, Phenotype, Polymorphism, Single Nucleotide, Receptors, G-Protein-Coupled, Sequence Analysis, DNA, Tetralogy of Fallot, chromosomes, DiGeorge syndrome, genotype, ivelo-cardio-facial syndrome, tetralogy of Fallot, International 22q11.2 Consortium/Brain and Behavior Consortium*, Medical Biotechnology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7hp1507kTest

المؤلفون: Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M, Josiah, Sunday S, Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J, Hao, Le T, Li, Hong, Stevenson, Roger E, Louie, Raymond J, Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A, Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M, Barr, Eileen E, Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G, Monaghan, Kristin G, Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K, Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M, Berger, Sara M, Milla, Sarah S, Jaykumar, Ankita B, Cobb, Melanie H, Panchagnula, Shreyas, Duy, Phan Q, Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill A, Friez, Michael J, Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E, Schwartz, Charles E, Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T, Isidor, Bertrand

وصف الملف: text; spreadsheet; image

العلاقة: https://eprints.soton.ac.uk/469160/1/K_ry_GIM_WNK3_Main_text_Clean_07_05_2022.pdfTest; https://eprints.soton.ac.uk/469160/2/Final_version_May_2022_K_ry_GIM_Table_S1_23_03_2022.xlsxTest; https://eprints.soton.ac.uk/469160/3/Final_version_May_2022_K_ry_GIM_Table_S2_10_12_2021.xlsxTest; https://eprints.soton.ac.uk/469160/4/Final_version_May_2022_K_ry_GIM_WNK3_Supplementary_Figures_03_03_2022_1_.pdfTest; https://eprints.soton.ac.uk/469160/5/Final_version_May_2022_K_ry_GIM_WNK3_Figure_1_22_11_2021.tifTest; https://eprints.soton.ac.uk/469160/6/Final_version_May_2022_K_ry_GIM_WNK3_Figure_2_08_11_2021.pdfTest; Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M, Josiah, Sunday S, Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J, Hao, Le T, Li, Hong, Stevenson, Roger E, Louie, Raymond J, Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A, Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M, Barr, Eileen E, Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G, Monaghan, Kristin G, Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K, Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M, Berger, Sara M, Milla, Sarah S, Jaykumar, Ankita B, Cobb, Melanie H, Panchagnula, Shreyas, Duy, Phan Q, Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill A, Friez, Michael J, Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E, Schwartz, Charles E, Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T and Isidor, Bertrand (2022) Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics in Medicine, 24 (9), 1941-1951. (doi:10.1016/j.gim.2022.05.009 ).

الإتاحة: https://doi.org/10.1016/j.gim.2022.05.009Test
https://eprints.soton.ac.uk/469160Test/
https://eprints.soton.ac.uk/469160/1/K_ry_GIM_WNK3_Main_text_Clean_07_05_2022.pdfTest
https://eprints.soton.ac.uk/469160/2/Final_version_May_2022_K_ry_GIM_Table_S1_23_03_2022.xlsxTest
https://eprints.soton.ac.uk/469160/3/Final_version_May_2022_K_ry_GIM_Table_S2_10_12_2021.xlsxTest
https://eprints.soton.ac.uk/469160/4/Final_version_May_2022_K_ry_GIM_WNK3_Supplementary_Figures_03_03_2022_1_.pdfTest
https://eprints.soton.ac.uk/469160/5/Final_version_May_2022_K_ry_GIM_WNK3_Figure_1_22_11_2021.tifTest
https://eprints.soton.ac.uk/469160/6/Final_version_May_2022_K_ry_GIM_WNK3_Figure_2_08_11_2021.pdfTest