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1Academic Journal
المؤلفون: Palmer, Elizabeth, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan, Chedrawi, Aziza, Hashem, Mais, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer, Sands, Tristan, Wilson, Golder, Silvertooth, Erin, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein, Ockeloen, Charlotte, Pfundt, Rolph, Kroft, Sanne, Field, Michael, Laranjeira, Francisco, Fortuna, Ana, Soares, Ana, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David, Bird, Lynne, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe, Blazo, Maria, Bijlsma, Emilia, Rosenfeld, Jill, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb, Armstrong, Ruth, Kalscheuer, Vera
المصدر: Molecular Psychiatry. 28(2)
مصطلحات موضوعية: Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: McInnes L, Nakamine Alisa, Pilorge Marion, Brandt Tracy, Jiménez González Patricia, Fallas Marietha, Manghi Elina R, Edelmann Lisa, Glessner Joseph, Hakonarson Hakon, Betancur Catalina, Buxbaum Joseph D
المصدر: Molecular Autism, Vol 1, Iss 1, p 5 (2010)
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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3Academic Journal
المصدر: Genetics in Medicine Open ; volume 2, page 101077 ; ISSN 2949-7744
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4Academic Journal
المؤلفون: Chung, Wendy, Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise, Suchy, Sharon, Bergtrup, Amber, Langley, Katherine, Amendola, Laura, Boyd, Brenna, Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian, Coffey, Alison, Devaney, Joseph, Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsey, Gyimah, Awura, Hernan, Rebecca, Hofherr, Sean, Hruska, Kathleen, Hu, Zhanzhi, Jeanne, Mederic, Jin, Guanjun, Johnson, Aaron, Kavus, Haluk, Leibel, Rudolph, McWalter, Kirsty, Monaghan, Kristin, Soler, Nicole Pimentel, Quevedo, Yeyson, Ratner, Samantha, Retterer, Kyle, Shapiro, Natasha, Sicko, Robert, Storm, Samuel, Torene, Rebecca, Williams, Olatundun, Wynn, Julia, Taft, Ryan, Kruszka, Paul, Caggana, Michele
المصدر: Genetics in Medicine Open ; volume 2, page 101369 ; ISSN 2949-7744
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5Academic Journal
المؤلفون: Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise M., Suchy, Sharon F., Begtrup, Amber, Langley, Katherine G., Hernan, Rebecca, Amendola, Laura M., Boyd, Brenna M., Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian L., Coffey, Alison J., Devaney, Joseph M., Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsay L., Gyimah, Awura, Hahn, Sihoun, Hofherr, Sean
المصدر: JAMA: Journal of the American Medical Association; 1/21/2025, Vol. 333 Issue 3, p232-240, 9p
مصطلحات موضوعية: NEWBORN screening, INFORMED consent (Medical law), MEDICAL screening, NUCLEOTIDE sequencing, RACE
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6Academic Journal
المؤلفون: Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogne, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stephanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Benedicte, Warde, Marie-Therese Abi, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E.R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Polsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zoe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikael, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.
المصدر: 1359-4184 ; Molecular psychiatry
مصطلحات موضوعية: Chemistry, Biology, Human medicine
Relation: info:eu-repo/semantics/altIdentifier/isi/000884630500002
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7Academic Journal
المؤلفون: Steele, Jacqueline L, Morrow, Michelle M, Sarnat, Harvey B, Alkhunaizi, Ebba, Brandt, Tracy, Chitayat, David A, DeFilippo, Colette P, Douglas, Ganka V, Dubbs, Holly A, Elloumi, Houda Zghal, Glassford, Megan R, Hannibal, Mark C, Héron, Bénédicte, Kim, Linda E, Marco, Elysa J, Mignot, Cyril, Monaghan, Kristin G, Myers, Kenneth A, Parikh, Sumit, Quinonez, Shane C, Rajabi, Farrah, Shankar, Suma P, Shinawi, Marwan S, van de Kamp, Jiddeke J P, Veerapandiyan, Aravindhan, Waldman, Amy T, Graf, William D
المصدر: Steele , J L , Morrow , M M , Sarnat , H B , Alkhunaizi , E , Brandt , T , Chitayat , D A , DeFilippo , C P , Douglas , G V , Dubbs , H A , Elloumi , H Z , Glassford , M R , Hannibal , M C , Héron , B , Kim , L E , Marco , E J , Mignot , C , Monaghan , K G , Myers , K A , Parikh , S , Quinonez , S C , Rajabi , F , ....
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8Academic Journal
المؤلفون: Palmer, Elizabeth E, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S, Chedrawi, Aziza, Hashem, Mais O, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M, Sands, Tristan T, Wilson, Golder N, Silvertooth, Erin J, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H, Ockeloen, Charlotte W, Pfundt, Rolph, Kroft, Sanne D, Field, Michael, Laranjeira, Francisco ER, Fortuna, Ana M, Soares, Ana R, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D, Bird, Lynne M, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M, Blazo, Maria, Bijlsma, Emilia K, Rosenfeld, Jill A, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S, Armstrong, Ruth, Kalscheuer, Vera M
المصدر: Molecular Psychiatry (2022) (In press).
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10160190/1/s41380-022-01852-9.pdf; https://discovery.ucl.ac.uk/id/eprint/10160190/
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9Academic Journal
المؤلفون: Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N, Clark, Karl J, Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B, Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E, Millan, Francisca, Si, Yue, Mall, Volker, Winkelmann, Juliane, Gavrilova, Ralitza H, Klee, Eric W, Engleman, Kendra, Safina, Nicole P, Slaugh, Rachel, Bryant, Emily M, Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N, Schaefer, G Bradley, Towner, Shelley, Brilstra, Eva H, Koeleman, Bobby P C
المساهمون: Genetica Groep Koeleman, Circulatory Health, Cancer, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain
مصطلحات موضوعية: NR4A2, developmental disorder, epilepsy, neurodevelopmental disorder, seizures, Genetics(clinical), Journal Article
وصف الملف: application/pdf
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10Academic Journal
المؤلفون: Brandt, Tracy, Sack, Laura M., Arjona, Dolores, Tan, Duanjun, Mei, Hui, Cui, Hong, Gao, Hua, Bean, Lora J.H., Ankala, Arunkanth, Del Gaudio, Daniela, Knight Johnson, Amy, Vincent, Lisa M., Reavey, Caitlin, Lai, Amy, Richard, Gabriele, Meck, Jeanne M.
المصدر: Genetics in Medicine ; volume 22, issue 2, page 336-344 ; ISSN 1098-3600
الاتاحة: http://dx.doi.org/10.1038/s41436-019-0655-2
http://www.nature.com/articles/s41436-019-0655-2.pdf
http://www.nature.com/articles/s41436-019-0655-2
https://api.elsevier.com/content/article/PII:S1098360021012922?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021012922?httpAccept=text/plain -
11Academic Journal
المؤلفون: Brandt, Tracy, Sack, Laura M., Arjona, Dolores, Tan, Duanjun, Mei, Hui, Cui, Hong, Gao, Hua, Bean, Lora J.H., Ankala, Arunkanth, Del Gaudio, Daniela, Johnson, Amy Knight, Vincent, Lisa M., Reavey, Caitlin, Lai, Amy, Richard, Gabriele, Meck, Jeanne M.
المصدر: Genetics in Medicine ; volume 22, issue 3, page 670-671 ; ISSN 1098-3600
الاتاحة: https://doi.org/10.1038/s41436-019-0725-5
http://www.nature.com/articles/s41436-019-0725-5.pdf
http://www.nature.com/articles/s41436-019-0725-5
https://api.elsevier.com/content/article/PII:S109836002101265X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002101265X?httpAccept=text/plain -
12Academic Journal
المؤلفون: Lindy, Amanda S., Stosser, Mary Beth, Butler, Elizabeth, Downtain‐Pickersgill, Courtney, Shanmugham, Anita, Retterer, Kyle, Brandt, Tracy, Richard, Gabriele, McKnight, Dianalee A.
المصدر: Epilepsia ; volume 59, issue 5, page 1062-1071 ; ISSN 0013-9580 1528-1167
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13Academic Journal
المؤلفون: Kirola, Laxmi, Norris, Joy, Holloway, Lynda, Brandt, Tracy, Kaercher, Kate, Ziats, Catherine A., McWalter, Kirsty, Jones, Marilyn C., Skinner, Cindy, Schwartz, Charles
المصدر: Gene Reports ; volume 27, page 101590 ; ISSN 2452-0144
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14Electronic Resource
المؤلفون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de pédiatrie, Palmer, Elizabeth E, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S, Chedrawi, Aziza, Hashem, Mais O, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M, Sands, Tristan T, Wilson, Golder N, Silvertooth, Erin J, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H, Ockeloen, Charlotte W, Pfundt, Rolph, Kroft, Sanne D, Field, Michael, Laranjeira, Francisco E R, Fortuna, Ana M, Soares, Ana R, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D, Bird, Lynne M, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M, Blazo, Maria, Bijlsma, Emilia K, Rosenfeld, Jill A, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S, Armstrong, Ruth, Kalscheuer, Vera M
المصدر: Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
مصطلحات الفهرس: info:eu-repo/semantics/article
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15Academic Journal
المؤلفون: Retterer, Kyle, Juusola, Jane, Cho, Megan T., Vitazka, Patrik, Millan, Francisca, Gibellini, Federica, Vertino-Bell, Annette, Smaoui, Nizar, Neidich, Julie, Monaghan, Kristin G., McKnight, Dianalee, Bai, Renkui, Suchy, Sharon, Friedman, Bethany, Tahiliani, Jackie, Pineda-Alvarez, Daniel, Richard, Gabriele, Brandt, Tracy, Haverfield, Eden, Chung, Wendy K., Bale, Sherri
المصدر: Genetics in Medicine ; volume 18, issue 7, page 696-704 ; ISSN 1098-3600
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16Academic Journal
المؤلفون: Mohassel, Payam, Donkervoort, Sandra, Lone, Museer A., Nalls, Matthew, Gable, Kenneth, Gupta, Sita D., Foley, A. Reghan, Hu, Ying, Saute, Jonas Alex Morales, Moreira, Ana Lucila, Kok, Fernando, Introna, Alessandro, Logroscino, Giancarlo, Grunseich, Christopher, Nickolls, Alec R., Pourshafie, Naemeh, Neuhaus, Sarah B., Saade, Dimah, Gangfuß, Andrea, Kölbel, Heike, Piccus, Zoe, Le Pichon, Claire E., Fiorillo, Chiara, Ly, Cindy V., Töpf, Ana, Brady, Lauren, Specht, Sabine, Zidell, Aliza, Pedro, Helio, Mittelmann, Eric, Thomas, Florian P., Chao, Katherine R., Konersman, Chamindra G., Cho, Megan T., Brandt, Tracy, Straub, Volker, Connolly, Anne M., Schara, Ulrike, Roos, Andreas, Tarnopolsky, Mark, Höke, Ahmet, Brown, Robert H., Lee, Chia-Hsueh, Hornemann, Thorsten, Dunn, Teresa M., Bönnemann, Carsten G.
المساهمون: U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke, U.S. Department of Health & Human Services | National Institutes of Health, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, United States Department of Defense | United States Army | Army Medical Command | Congressionally Directed Medical Research Programs
المصدر: Nature Medicine ; volume 27, issue 7, page 1197-1204 ; ISSN 1078-8956 1546-170X
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17Academic Journal
المؤلفون: Meck, Jeanne, Torene, Rebecca, Sack, Laura, Brandt, Tracy
المصدر: Cancer Genetics ; volume 252-253, page S12-S13 ; ISSN 2210-7762
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18Academic Journal
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19Academic Journal
المؤلفون: Carey, Abigail S., Liang, Li, Edwards, Jonathan, Brandt, Tracy, Mei, Hui, Sharp, Andrew J., Hsu, Daphne T., Newburger, Jane W., Ohye, Richard G., Chung, Wendy K., Russell, Mark W., Rosenfeld, Jill A., Shaffer, Lisa G., Parides, Michael K., Edelmann, Lisa, Gelb, Bruce D.
المصدر: Circulation: Cardiovascular Genetics ; volume 6, issue 5, page 444-451 ; ISSN 1942-325X 1942-3268
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20Academic Journal
مصطلحات موضوعية: Article
وصف الملف: text/html