المؤلفون: Petit, Florence, Longoni, Mauro, Wells, Julie, Maser, Richard, Bogenschutz, Eric, Dysart, Matthew, Contreras, Hannah, Frénois, Frederic, Pober, Barbara, Clark, Robin, Giampietro, Philip, Ropers, Hilger, Hu, Hao, Loscertales, Maria, Wagner, Richard, Ai, Xingbin, Brand, Harrison, Jourdain, Anne-Sophie, Delrue, Marie-Ange, Gilbert-Dussardier, Brigitte, Devisme, Louise, Keren, Boris, McCulley, David, Qiao, Lu, Hernan, Rebecca, Wynn, Julia, Scott, Tiana, Calame, Daniel, Coban-Akdemir, Zeynep, Hernandez, Patricia, Hernandez-Garcia, Andres, Yonath, Hagith, Lupski, James, Shen, Yufeng, Chung, Wendy, Scott, Daryl, Bult, Carol, Donahoe, Patricia, High, Frances

المصدر: American Journal of Human Genetics. 110(10)

مصطلحات موضوعية: PLS3, plastin, X-linked, abdominal hernia, actin-binding protein, congenital diaphragmatic hernia, fimbrin, omphalocele, umbilical hernia, Adult, Humans, Male, Animals, Mice, Hernias, Diaphragmatic, Congenital, Actins, Mutation, Missense, Osteoporosis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5cz6x7gg
https://escholarship.org/content/qt5cz6x7gg/qt5cz6x7gg.pdf

المؤلفون: Caron, Véronique, Chassaing, Nicolas, Ragge, Nicola, Boschann, Felix, Ngu, Angelina My-Hoa, Meloche, Elisabeth, Chorfi, Sarah, Lakhani, Saquib A, Ji, Weizhen, Steiner, Laurie, Marcadier, Julien, Jansen, Philip R, van de Pol, Laura A, van Hagen, Johanna M, Russi, Alvaro Serrano, Le Guyader, Gwenaël, Nordenskjöld, Magnus, Nordgren, Ann, Anderlid, Britt-Marie, Plaisancié, Julie, Stoltenburg, Corinna, Horn, Denise, Drenckhahn, Anne, Hamdan, Fadi F, Lefebvre, Mathilde, Attie-Bitach, Tania, Forey, Peggy, Smirnov, Vasily, Ernould, Françoise, Jacquemont, Marie-Line, Grotto, Sarah, Alcantud, Alberto, Coret, Alicia, Ferrer-Avargues, Rosario, Srivastava, Siddharth, Vincent-Delorme, Catherine, Romoser, Shelby, Safina, Nicole, Saade, Dimah, Lupski, James R, Calame, Daniel G, Geneviève, David, Chatron, Nicolas, Schluth-Bolard, Caroline, Myers, Kenneth A, Dobyns, William B, Calvas, Patrick, Study, The DDD, Salmon, Caroline, Holt, Richard, Elmslie, Frances, Allaire, Marc, Prigozhin, Daniil M, Tremblay, André, Michaud, Jacques L

المصدر: Genetics in Medicine. 25(8)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Humans, Receptors, Retinoic Acid, Retinoids, Microphthalmos, DDD Study, Dystonia, Global developmental delay, Microphthalmia, Retinoic acid, Retinoic acid receptor beta, Clinical Sciences, Genetics & Heredity

URL الوصول: https://escholarship.org/uc/item/30t610jx

المؤلفون: Qian, Xuyu, DeGennaro, Ellen, Talukdar, Maya, Akula, Shyam, Lai, Abbe, Shao, Diane, Gonzalez, Dilenny, Marciano, Jack, Smith, Richard, Hylton, Norma, Yang, Edward, Bazan, J, Barrett, Lee, Yeh, Rebecca, Hill, R, Beck, Samantha, Otani, Aoi, Angad, Jolly, Mitani, Tadahiro, Posey, Jennifer, Pehlivan, Davut, Calame, Daniel, Aydin, Hatip, Yesilbas, Osman, Parks, Kendall, England, Eleina, Im, Kiho, Taranath, Ajay, Scott, Hamish, Barnett, Christopher, Arts, Peer, Sherr, Elliott, Lupski, James, Walsh, Christopher, Argilli, Emanuela

المصدر: Developmental Cell. 57(20)

مصطلحات موضوعية: apoptosis, cerebral cortex, congenital brain malformation, corpus callosum, development, genetics, kinesin, migration, organoid, Humans, Animals, Mice, Kinesins, Neurons, Focal Adhesion Protein-Tyrosine Kinases, Apoptosis, Brain

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9rq571mk
https://escholarship.org/content/qt9rq571mk/qt9rq571mk.pdf

المؤلفون: Deb, Wallid, Rosenfelt, Cory, Vignard, Virginie, Papendorf, Jonas Johannes, Möller, Sophie, Wendlandt, Martin, Studencka-Turski, Maja, Cogné, Benjamin, Besnard, Thomas, Ruffier, Léa, Toutain, Bérénice, Poirier, Léa, Cuinat, Silvestre, Kritzer, Amy, Crunk, Amy, diMonda, Janette, Vengoechea, Jaime, Mercier, Sandra, Kleinendorst, Lotte, van Haelst, Mieke M., Zuurbier, Linda, Sulem, Telma, Katrínardóttir, Hildigunnur, Friðriksdóttir, Rún, Sulem, Patrick, Stefansson, Kari, Jonsdottir, Berglind, Zeidler, Shimriet, Sinnema, Margje, Stegmann, Alexander P.A., Naveh, Natali, Skraban, Cara M., Gray, Christopher, Murrell, Jill R., Isikay, Sedat, Pehlivan, Davut, Calame, Daniel G., Posey, Jennifer E., Nizon, Mathilde, McWalter, Kirsty, Lupski, James R., Isidor, Bertrand, Bolduc, François V., Bézieau, Stéphane, Krüger, Elke, Küry, Sébastien, Ebstein, Frédéric

المصدر: Deb , W , Rosenfelt , C , Vignard , V , Papendorf , J J , Möller , S , Wendlandt , M , Studencka-Turski , M , Cogné , B , Besnard , T , Ruffier , L , Toutain , B , Poirier , L , Cuinat , S , Kritzer , A , Crunk , A , diMonda , J , Vengoechea , J , Mercier , S , Kleinendorst , L , van Haelst , M M , Zuurbier , L , Sulem , T , Katrínardóttir , H , Friðriksdóttir , R , ....

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/4e964dd7-36f5-4fb9-8bc4-c94d13f4d3b7
https://doi.org/10.1016/j.ajhg.2024.05.016
http://www.scopus.com/inward/record.url?scp=85197070758&partnerID=8YFLogxK

المؤلفون: Edmondson, Ethan, Pauli, Paisley, Punia, Jyotinder, Calame, Daniel

المصدر: Neurology ; volume 102, issue 17_supplement_1 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000204933

المؤلفون: Maroofian, Reza, Zamani, Mina, Kaiyrzhanov, Rauan, Liebmann, Lutz, Karimiani, Ehsan Ghayoor, Vona, Barbara, Huebner, Antje K., Calame, Daniel G., Misra, Vinod K., Sadeghian, Saeid, Azizimalamiri, Reza, Mohammadi, Mohammad Hasan, Zeighami, Jawaher, Heydaran, Sogand, Toosi, Mehran Beiraghi, Akhondian, Javad, Babaei, Meisam, Hashemi, Narges, Schnur, Rhonda E., Suri, Mohnish, Setzke, Jonas, Wagner, Matias, Brunet, Theresa, Grochowski, Christopher M., Emrick, Lisa, Chung, Wendy K., Hellmich, Ute A., Schmidts, Miriam, Lupski, James R., Galehdari, Hamid, Severino, Mariasavina, Houlden, Henry, Hübner, Christian A.

المساهمون: MRC

المصدر: Genetics in Medicine ; volume 26, issue 3, page 101034 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2023.101034
https://api.elsevier.com/content/article/PII:S109836002301050X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002301050X?httpAccept=text/plain

المؤلفون: Calame, Daniel G., Emrick, Lisa T.

المساهمون: National Institutes of Health

المصدر: Neurotherapeutics ; volume 21, issue 1, page e00316 ; ISSN 1878-7479

الاتاحة: http://dx.doi.org/10.1016/j.neurot.2024.e00316
https://api.elsevier.com/content/article/PII:S1878747924000023?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878747924000023?httpAccept=text/plain

المؤلفون: Mao, Dongxue, Reuter, Chloe, Ruzhnikov, Maura, Beck, Anita, Farrow, Emily, Emrick, Lisa, Rosenfeld, Jill, Mackenzie, Katherine, Robak, Laurie, Wheeler, Matthew, Burrage, Lindsay, Jain, Mahim, Liu, Pengfei, Calame, Daniel, Küry, Sébastien, Sillesen, Martin, Schmitz-Abe, Klaus, Tonduti, Davide, Spaccini, Luigina, Iascone, Maria, Genetti, Casie, Koenig, Mary, Graf, Madeline, Tran, Alyssa, Alejandro, Mercedes, Lee, Brendan, Thiffault, Isabelle, Agrawal, Pankaj, Bernstein, Jonathan, Bellen, Hugo, Chao, Hsiao-Tuan

المصدر: American Journal of Human Genetics. 106(4)

مصطلحات موضوعية: EIF2S1, EIF2α, abnormal myelination, cognitive impairment, febrile illnesses, hypomyelination, hypotonia, integrated stress response, movement disorders, regression, Adolescent, Ataxia, Child, Child, Preschool, Developmental Disabilities, Female, Genetic Variation, Hereditary Central Nervous System Demyelinating Diseases, Humans, Infant, Leukoencephalopathies, Male, Nervous System Malformations, White Matter, eIF-2 Kinase

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3xx673sg
https://escholarship.org/content/qt3xx673sg/qt3xx673sg.pdf

المؤلفون: Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio

المساهمون: Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yanni, LeBlanc, Pontu, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio

مصطلحات موضوعية: Drosophila, SRSF1, epigenetic signature, haploinsufficiency, neurodevelopmental disorder, splicing

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37071997; info:eu-repo/semantics/altIdentifier/wos/WOS:001038185000001; volume:110; issue:5; firstpage:790; lastpage:808; numberofpages:19; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11585/964856; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153601944; https://www.sciencedirect.com/science/article/pii/S0002929723001003

الاتاحة: https://hdl.handle.net/11585/964856
https://doi.org/10.1016/j.ajhg.2023.03.016
https://www.sciencedirect.com/science/article/pii/S0002929723001003

المؤلفون: Sczakiel, Henrike L, Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B, Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G, Lupski, James R, Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix

المصدر: European Journal of Human Genetics (2023) (In press).

مصطلحات موضوعية: Clinical genetics, Genetics research

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10170574/1/Maroofian_Broadening%20the%20phenotypic%20and%20molecular%20spectrum%20of%20FINCA%20syndrome_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10170574/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10170574/1/Maroofian_Broadening%20the%20phenotypic%20and%20molecular%20spectrum%20of%20FINCA%20syndrome_AOP.pdf
https://discovery.ucl.ac.uk/id/eprint/10170574/

المؤلفون: Calame, Daniel G, Moreno Vadillo, Cristina, Berger, Seth, Lotze, Timothy, Shinawi, Marwan, Poupak, Javaher, Heller, Corina, Cohen, Julie, Person, Richard, Telegrafi, Aida, Phitsanuwong, Chalongchai, Fiala, Kaylene, Thiffault, Isabelle, Del Viso, Florencia, Zhou, Dihong, Fleming, Emily A, Pastinen, Tomi, Fatemi, Ali, Thomas, Sruthi, Pascual, Samuel I, Torres, Rosa J, Prior, Carmen, Gómez-González, Clara, Biskup, Saskia, Lupski, James R, Maric, Dragan, Holmgren, Miguel, Regier, Debra, Yano, Sho T

المساهمون: NIH Brain Disorders, US National Human Genome Research Institute, National Institute of Neurological Disorders and Stroke, NIH Intramural Research Program

المصدر: Brain ; volume 146, issue 8, page 3162-3171 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awad124
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad124/50411860/awad124.pdf
https://academic.oup.com/brain/article-pdf/146/8/3162/51018447/awad124.pdf

المؤلفون: Du, Haowei, Dardas, Zain, Jolly, Angad, Grochowski, Christopher M, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Yesil, Gozde, Elçioglu, Nursel H, Gezdirici, Alper, Marafi, Dana, Pehlivan, Davut, Calame, Daniel G, Carvalho, Claudia M B, Posey, Jennifer E, Gambin, Tomasz, Coban-Akdemir, Zeynep, Lupski, James R

المساهمون: US National Institutes of Health, National Human Genome Research Institute, NHLBI, NHGRI Genomic Research Elucidates Genetics of Rare disease, National Institute of General Medical Sciences, National Institute for Neurological Disorders and Stroke, Rett Syndrome Research Trust, International Rett Syndrome Foundation, Doris Duke Charitable Foundation, United States National Institute of Health, Child Neurologist Career Development Program K12 and MDA Development

المصدر: Nucleic Acids Research ; volume 52, issue 4, page e18-e18 ; ISSN 0305-1048 1362-4962

مصطلحات موضوعية: Genetics

الاتاحة: http://dx.doi.org/10.1093/nar/gkad1223
https://academic.oup.com/nar/article-pdf/52/4/e18/56762940/gkad1223.pdf

المؤلفون: Paul, Maimuna S., Duncan, Anna R., Genetti, Casie A., Pan, Hongling, Jackson, Adam, Grant, Patricia E., Shi, Jiahai, Pinelli, Michele, Brunetti-Pierri, Nicola, Garza-Flores, Alexandra, Shahani, Dave, Saneto, Russell P., Zampino, Giuseppe, Leoni, Chiara, Agolini, Emanuele, Novelli, Antonio, Blümlein, Ulrike, Haack, Tobias B., Heinritz, Wolfram, Matzker, Eva, Alhaddad, Bader, Abou Jamra, Rami, Bartolomaeus, Tobias, AlHamdan, Saber, Carapito, Raphael, Isidor, Bertrand, Bahram, Seiamak, Ritter, Alyssa, Izumi, Kosuke, Shakked, Ben Pode, Barel, Ortal, Ben Zeev, Bruria, Begtrup, Amber, Carere, Deanna Alexis, Mullegama, Sureni V., Palculict, Timothy Blake, Calame, Daniel G., Schwan, Katharina, Aycinena, Alicia R.P., Traberg, Rasa, Douzgou, Sofia, Pirt, Harrison, Ismayilova, Naila, Banka, Siddharth, Chao, Hsiao-Tuan, Agrawal, Pankaj B.

المصدر: The American Journal of Human Genetics ; volume 110, issue 1, page 120-145 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.11.011
https://api.elsevier.com/content/article/PII:S000292972200502X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292972200502X?httpAccept=text/plain

المؤلفون: Calame, Daniel G., Guo, Tianyu, Wang, Chen, Garrett, Lillian, Jolly, Angad, Dawood, Moez, Kurolap, Alina, Henig, Noa Zunz, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Mitani, Tadahiro, Becker, Lore, Rathkolb, Birgit, Gerlini, Raffaele, Seisenberger, Claudia, Marschall, Susan, Hunter, Jill V., Gerard, Amanda, Heidlebaugh, Alexis, Challman, Thomas, Spillmann, Rebecca C., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Lalani, Seema, Liu, Lingxiao, Revah-Politi, Anya, Iglesias, Alejandro, Guzman, Edwin, Baugh, Evan, Boddaert, Nathalie, Rondeau, Sophie, Ormieres, Clothide, Barcia, Giulia, Tan, Queenie K.G., Thiffault, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, Elsebet, Nazaryan-Petersen, Lusine, Millan, Francisca, Santiago-Sim, Teresa, Thevenon, Julien

المصدر: The American Journal of Human Genetics ; volume 110, issue 8, page 1394-1413 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.06.013
https://api.elsevier.com/content/article/PII:S0002929723002148?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929723002148?httpAccept=text/plain

المؤلفون: Faqeih, Eissa A., Alghamdi, Malak Ali, Almahroos, Marwa A., Alharby, Essa, Almuntashri, Makki, Alshangiti, Amnah M., Clément, Prouteau, Calame, Daniel G., Qebibo, Leila, Burglen, Lydie, Doco-Fenzy, Martine, Mastrangelo, Mario, Torella, Annalaura, Manti, Filippo, Nigro, Vincenzo, Alban, Ziegler, Alharbi, Ghadeer Saleh, Hashmi, Jamil Amjad, Alraddadi, Rawya, Alamri, Razan, Mitani, Tadahiro, Magalie, Barth, Coban-Akdemir, Zeynep, Geckinli, Bilgen Bilge, Pehlivan, Davut, Romito, Antonio, Karageorgou, Vasiliki, Martini, Javier, Colin, Estelle, Bonneau, Dominique, Bertoli-Avella, Aida, Lupski, James R., Pastore, Annalisa, Peake, Roy W.A., Dallol, Ashraf, Alfadhel, Majid, Almontashiri, Naif A.M.

المصدر: Genetics in Medicine ; volume 25, issue 2, page 100323 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.10.006
https://api.elsevier.com/content/article/PII:S109836002200987X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002200987X?httpAccept=text/plain

المؤلفون: Immanneni, Chetan, Jiao, Song, Calame, Daniel, Emrick, Lisa, Holmgren, Miguel, Yano, Sho

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100391 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100391
https://api.elsevier.com/content/article/PII:S2949774423003916?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423003916?httpAccept=text/plain

المؤلفون: Sadat, Roa, Calame, Daniel, Emrick, Lisa

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100313 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100313
https://api.elsevier.com/content/article/PII:S2949774423003138?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423003138?httpAccept=text/plain

المؤلفون: Frost, F. Graeme, Morimoto, Marie, Sharma, Prashant, Ruaud, Lyse, Belnap, Newell, Calame, Daniel G., Uchiyama, Yuri, Matsumoto, Naomichi, Oud, Machteld M., Ferreira, Elise A., Narayanan, Vinodh, Rangasamy, Sampath, Huentelman, Matt, Emrick, Lisa T., Sato-Shirai, Ikuko, Kumada, Satoko, Wolf, Nicole I., Steinbach, Peter J., Huang, Yan, Pusey, Barbara N., Passemard, Sandrine, Levy, Jonathan, Drunat, Séverine, Vincent, Marie, Guet, Agnès, Agolini, Emanuele, Novelli, Antonio, Digilio, Maria Cristina, Rosenfeld, Jill A., Murphy, Jennifer L., Lupski, James R., Vezina, Gilbert, Macnamara, Ellen F., Adams, David R., Acosta, Maria T., Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.

المصدر: The American Journal of Human Genetics ; volume 110, issue 4, page 663-680 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.03.001
https://api.elsevier.com/content/article/PII:S000292972300085X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292972300085X?httpAccept=text/plain

المؤلفون: Calame, Daniel G., Marafi, Dana, Lupski, James R.

المصدر: Neurogenetics for the Practitioner ; page 17-37 ; ISBN 9780323994170

الاتاحة: http://dx.doi.org/10.1016/b978-0-323-99417-0.00009-4
https://api.elsevier.com/content/article/PII:B9780323994170000094?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780323994170000094?httpAccept=text/plain

المؤلفون: Baek, Rena C., Bonardo, Pablo, Brady, Philip, Butterfield, Russell J., Calame, Daniel G., Chung, Wendy K., Cohen, Bernard A., Corvin, Aiden, Daich Varela, Malena, de Boer, Irene, Dyment, David A., Eratne, Dhamidhu, Fassad, Mahmoud R., Federico, Antonio, Fink, John K., Finn, Patrick F., Georgiou, Michalis, Gill, Pritmohinder S., Heron, Elizabeth, Huq, Aamira J., Jinnah, H.A., Kernohan, Kristin D., Kim, Jong-Won, Kinariwalla, Neha, Koleilat, Alaa, Lawrence, Chloe J., Lequin, Maarten, Li, Hong, Lin, Ava Yun, Lupski, James R., Lynch, David S., Manberg, Stephanie, Marafi, Dana, Martini, Paolo G.V., Matthews, Emma, McFarland, Robert, Menkovic, Iskren, Michaelides, Michel, Millington, David S., Muthusamy, Karthik, Oegema, Renske, Ormond, Cathal, Park, Helen H., Park, Kyung Sun, Pastores, Gregory M., Patel, Krutik, Porter-Gill, Patricia A., Reisin, Ricardo, Rule, Don, Ryan, Niamh

المصدر: Neurogenetics for the Practitioner ; page xiii-xv ; ISBN 9780323994170

الاتاحة: http://dx.doi.org/10.1016/b978-0-323-99417-0.09990-0
https://api.elsevier.com/content/article/PII:B9780323994170099900?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780323994170099900?httpAccept=text/plain