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: Tung, Moon Ley, Chandra, Bharatendu, Nagy, Jaime, El-Shanti, Hatem, Bernat, John, Safina, Nicole, Calhoun, Amy, Younger, Georgianne, Dillahunt, Kyle, Paulson, Anna, Warner, Taylor, Bombei, Hannah, Kotlarek, Jaclyn

المصدر: Genetics in Medicine Open ; volume 2, page 101042 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101042
https://api.elsevier.com/content/article/PII:S2949774424001882?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424001882?httpAccept=text/plain

المؤلفون: Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N, Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T, Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G, McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M, Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Sacoto, Maria J Guillen, Safina, Nicole P, Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H, Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Shamsi, Aisha Mohamed Al, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J, Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E, Pasquier, Laurent, Küry, Sébastien

المصدر: American Journal of Human Genetics. 102(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Neurosciences, Pediatric, Rare Diseases, Brain Disorders, Autism, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Aged, 80 and over, Alleles, Animals, Autistic Disorder, Brain, Cerebellar Ataxia, Child, Child, Preschool, DNA Copy Number Variations, Disease Models, Animal, Female, Genes, Dominant, Genetic Complementation Test, Humans, Intellectual Disability, Larva, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Nuclear Receptor Subfamily 1, Group F, Member 1, Purkinje Cells, Syndrome, Zebrafish, RORA, autistic features, cerebellar ataxia, dual molecular effects, epilepsy, intellectual disability, neurodevelopmental disorder, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7rq0h7dd

المؤلفون: Tung, Moon Ley, Panzer, Karin, Safina, Nicole, Sidhu, Alpa

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100362 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100362
https://api.elsevier.com/content/article/PII:S294977442300362X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S294977442300362X?httpAccept=text/plain

المؤلفون: Abu‐El‐Haija, Aya, Dillahunt, Kyle, Safina, Nicole, Aldeeri, Abdulrahman, Glavan, Tomislav, Mihalek, Ivana, Shinawi, Marwan

المصدر: American Journal of Medical Genetics. Part A; Oct2024, Vol. 194 Issue 10, p1-6, 6p

المؤلفون: Lebaron, Simon, O'Donohue, Marie-Françoise, Smith, Scott, Engleman, Kendra, Juusola, Jane, Safina, Nicole, Thiffault, Isabelle, Saunders, Carol, Gleizes, Pierre‐emmanuel

المساهمون: Unité de biologie Moléculaire, Cellulaire et du Développement (MCD), Centre de Biologie Intégrative (CBI), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), ANR-15-CE12-0001,DBA-MULTIGENES,DBA-MULTIGENES: identification et caractérisation de gènes candidats pour la découverte de nouveaux mécanismes physiopathologiques à l'origine de l'anémie de Blackfan-Diamond.(2015), ANR-15-RAR3-0007,EuroDBA,The European Diamond-Blackfan Anemia Consortium(2015), ANR-19-RAR4-0016,RiboEurope,The European Ribosomopathy Consortium(2019)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-03664473
https://hal.science/hal-03664473v1/document
https://hal.science/hal-03664473v1/file/220104_Proofs_RPL8.pdf
https://doi.org/10.1002/humu.24323

المؤلفون: Tung, Moon Ley, Warner, Taylor, Bombei, Hannah, Safina, Nicole, Nagy, Jaime

المصدر: Genetics in Medicine ; volume 24, issue 3, page S166-S167 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.01.298
https://api.elsevier.com/content/article/PII:S109836002200315X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002200315X?httpAccept=text/plain

المؤلفون: Tung, Moon Ley, Romoser, Shelby, Kotlarek, Jaclyn, Warner, Taylor, Calhoun, Amy, Safina, Nicole

المصدر: Genetics in Medicine ; volume 24, issue 3, page S166 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.01.297
https://api.elsevier.com/content/article/PII:S1098360022003148?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022003148?httpAccept=text/plain

المؤلفون: Thiffault, Isabelle, Speca, David J, Austin, Daniel C, Cobb, Melanie M, Eum, Kenneth S, Safina, Nicole P, Grote, Lauren, Farrow, Emily G, Miller, Neil, Soden, Sarah, Kingsmore, Stephen F, Trimmer, James S, Saunders, Carol J, Sack, Jon T

المصدر: The Journal of General Physiology. 146(5)

مصطلحات موضوعية: Biological Sciences, Medical Physiology, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Neurosciences, Neurodegenerative, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Action Potentials, Animals, CHO Cells, COS Cells, Chlorocebus aethiops, Cricetinae, Cricetulus, Female, Humans, Ion Channel Gating, Mutation, Missense, Potassium, Protein Transport, RNA, Messenger, Shab Potassium Channels, Physiology, Biochemistry and cell biology, Zoology, Medical physiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1n18892x

المؤلفون: Abderrahman, Yezan, Matsumoto, Satsuki, Safina, Nicole, Luangrath, Mitchell

المصدر: Critical Care Medicine ; volume 50, issue 1, page 370-370 ; ISSN 0090-3493

الاتاحة: http://dx.doi.org/10.1097/01.ccm.0000809336.32636.73
https://journals.lww.com/10.1097/01.ccm.0000809336.32636.73

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

Relation: https://dspace.library.uu.nl/handle/1874/439931

الاتاحة: https://dspace.library.uu.nl/handle/1874/439931

المؤلفون: Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T, Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J, Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W, Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna

وصف الملف: application/pdf

Relation: BMC Medical Genomics. 2019 Jul 09;12(1):105; http://hdl.handle.net/1807/95693; https://doi.org/10.1186/s12920-019-0555-y

الاتاحة: http://hdl.handle.net/1807/95693
https://doi.org/10.1186/s12920-019-0555-y

المؤلفون: Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse, Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Lindstrand, Anna, Nordgren, Ann, Kvarnung, Malin, Kleefstra, Tjitske, de Vries, Bert B.A., Küry, Sébastien, Rosenfeld, Jill A., Meuwissen, Marije, Vandeweyer, Geert, Kooy, Frank, Bakshi, Madhura, Wilson, Meredith, Berman, Yemina, Dickson, Rebecca, Fransen, Erik, Helsmoortel, Céline, van den Ende, Jenneke, Van der Aa, Nathalie, van de Wijdeven, Marina J., Rosenblum, Jessica, Monteiro, Fabiola, Kok, Fernando, Quercia, Nada, Bowdin, Sarah, Dyment, David, Chitayat, David, Alkhunaizi, Ebba, Boonen, Susanne E., Keren, Boris, Jacquette, Aurelia, Faivre, Laurence, Bezieau, Stephane, Isidor, Bertrand, Riess, Angelika, Moog, Ute, Lynch, Sally Ann, McVeigh, Terri, Elpeleg, Orly, Smeland, Marie Falkenberg, Fannemel, Madeleine, van Haeringen, Arie, Maas, Saskia M., Veenstra-Knol, H. E., Schouten, Meyke, Willemsen, Marjolein H., Marcelis, Carlo L., Ockeloen, Charlotte, van der Burgt, Ineke, Feenstra, Ilse, van der Smagt, Jasper, Jezela-Stanek, Aleksandra, Krajewska-Walasek, Malgorzata, Gonzalez-Lamuno, Domingo, Anderlid, Britt-Marie, Malmgren, Helena, Nordenskjold, Magnus, Clement, Emma, Hurst, Jane, Metcalfe, Kay, Mansour, Sahar, Lachlan, Katherine, Clayton-Smith, Jill, Hendon, Laura G., Abdulrahman, Omar A., Morrow, Eric, McMillan, Clare, Gerdts, Jennifer, Peeden, Joseph, Vergano, Samantha A. Schrier, Valentino, Caitlin, Chung, Wendy K., Ozmore, Jillian R., Bedrosian-Sermone, Sandra, Dennis, Anna, Treat, Kayla, Hughes, Susan Starling, Safina, Nicole, Le Pichon, Jean-Baptiste, McGuire, Marianne, Infante, Elena, Madan-Khetarpal, Suneeta, Desai, Sonal, Benke, Paul, Krokosky, Alyson, Cristian, Ingrid, Baker, Laura, Gripp, Karen, Stessman, Holly A., Eichenberger, Jacob, Jayakar, Parul, Pizzino, Amy, Manning, Melanie Ann, Slattery, Leah

المساهمون: ADNP Consortium

المصدر: 0006-3223 ; Biological psychiatry

مصطلحات موضوعية: Biology, Human medicine

وصف الملف: pdf

Relation: info:eu-repo/semantics/altIdentifier/isi/000456013700007

الاتاحة: https://hdl.handle.net/10067/1545230151162165141
https://repository.uantwerpen.be/docman/irua/efab39/154523_2019_03_16.pdf

المؤلفون: Cadieux-Dion, Maxime, Safina, Nicole P., Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle

المساهمون: Children's Mercy Hospital, Patton Trust, W.T. Kemper Foundation, Marion Merrell Dow Foundation, Pat & Gil Clements Foundation, Claire Giannini Foundation, Black & Veatch

المصدر: BMC Medical Genetics ; volume 19, issue 1 ; ISSN 1471-2350

الاتاحة: http://dx.doi.org/10.1186/s12881-018-0556-2
http://link.springer.com/content/pdf/10.1186/s12881-018-0556-2.pdf
http://link.springer.com/article/10.1186/s12881-018-0556-2/fulltext.html

المؤلفون: Thiffault, Isabelle, Saunders, Carol, Jenkins, Janda, Raje, Nikita, Canty, Kristi, Sharma, Mukta, Grote, Lauren, Welsh, Holly I, Farrow, Emily, Twist, Greyson, Miller, Neil, Zwick, David, Zellmer, Lee, Kingsmore, Stephen F, Safina, Nicole P

المصدر: BMC Medical Genetics ; volume 16, issue 1 ; ISSN 1471-2350

الاتاحة: http://dx.doi.org/10.1186/s12881-015-0177-y
http://link.springer.com/article/10.1186/s12881-015-0177-y/fulltext.html
http://link.springer.com/content/pdf/10.1186/s12881-015-0177-y.pdf
http://link.springer.com/content/pdf/10.1186/s12881-015-0177-y

المؤلفون: Thiffault, Isabelle, Saunders, Carol, Raje, Nikita, Safina, Nicole P.

المصدر: Encyclopedia of Medical Immunology ; page 182-187 ; ISBN 9781461486770 9781461486787

الاتاحة: http://dx.doi.org/10.1007/978-1-4614-8678-7_181
http://link.springer.com/content/pdf/10.1007/978-1-4614-8678-7_181

المؤلفون: Tompson, Stuart W., Bacino, Carlos A., Safina, Nicole P., Bober, Michael B., Proud, Virginia K., Funari, Tara, Wangler, Michael F., Nevarez, Lisette, Ala-Kokko, Leena, Wilcox, William R., Eyre, David R., Krakow, Deborah, Cohn, Daniel H.

المصدر: The American Journal of Human Genetics ; volume 87, issue 5, page 708-712 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2010.10.009
https://api.elsevier.com/content/article/PII:S0002929710005252?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929710005252?httpAccept=text/plain

المؤلفون: Genetica Groep Koeleman, Circulatory Health, Cancer, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain, 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

URL: https://doi.org/10.1038/s41436-020-0815-4
http://hdl.handle.net/1874/439931
http://www.scopus.com/inward/record.url?scp=85085140326&partnerID=8YFLogxK
1098-3600
Genetics in medicine : official journal of the American College of Medical Genetics
22
8
1413
1417

المؤلفون: Thiffault, Isabelle, Saunders, Carol, Raje, Nikita, Safina, Nicole P.

المصدر: Encyclopedia of Medical Immunology ; page 1-6 ; ISBN 9781461492092 9781461492092

الاتاحة: http://dx.doi.org/10.1007/978-1-4614-9209-2_181-1
http://link.springer.com/content/pdf/10.1007/978-1-4614-9209-2_181-1

المؤلفون: Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle, Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah, Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen, Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::556446b600e6d87db81fe6db06fa92b9