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1دورية أكاديمية
المؤلفون: Cheung, Warren A., Johnson, Adam F., Rowell, William J., Farrow, Emily, Hall, Richard, Cohen, Ana S. A., Means, John C., Zion, Tricia N., Portik, Daniel M., Saunders, Christopher T., Koseva, Boryana, Bi, Chengpeng, Truong, Tina K., Schwendinger-Schreck, Carl, Yoo, Byunggil, Johnston, Jeffrey J., Gibson, Margaret, Evrony, Gilad, Rizzo, William B., Thiffault, Isabelle, Younger, Scott T., Curran, Tom, Wenger, Aaron M., Grundberg, Elin, Pastinen, Tomi
المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-023-38782-1Test
https://www.nature.com/articles/s41467-023-38782-1.pdfTest
https://www.nature.com/articles/s41467-023-38782-1Test -
2دورية أكاديمية
المؤلفون: Rehm, Heidi L, Alaimo, Joseph T, Aradhya, Swaroop, Bayrak-Toydemir, Pinar, Best, Hunter, Brandon, Rhonda, Buchan, Jillian G, Chao, Elizabeth C, Chen, Elaine, Clifford, Jacob, Cohen, Ana S A, Conlin, Laura K, Das, Soma, Davis, Kyle W, Del Gaudio, Daniela, Del Viso, Florencia, DiVincenzo, Christina, Eisenberg, Marcia, Guidugli, Lucia, Hammer, Monia B, Harrison, Steven M, Hatchell, Kathryn E, Dyer, Lindsay Havens, Hoang, Lily U, Holt, James M, Jobanputra, Vaidehi, Karbassi, Izabela D, Kearney, Hutton M, Kelly, Melissa A, Kelly, Jacob M, Kluge, Michelle L, Komala, Timothy, Kruszka, Paul, Lau, Lynette, Lebo, Matthew S, Marshall, Christian R, McKnight, Dianalee, McWalter, Kirsty, Meng, Yan, Nagan, Narasimhan, Neckelmann, Christian S, Neerman, Nir, Niu, Zhiyv, Paolillo, Vitoria K, Paolucci, Sarah A, Perry, Denise, Pesaran, Tina, Radtke, Kelly, Rasmussen, Kristen J, Retterer, Kyle, Saunders, Carol J, Spiteri, Elizabeth, Stanley, Christine, Szuto, Anna, Taft, Ryan J, Thiffault, Isabelle, Thomas, Brittany C, Thomas-Wilson, Amanda, Thorpe, Erin, Tidwell, Timothy J, Towne, Meghan C, Zouk, Hana
المصدر: Genet Med ; ISSN:1530-0366 ; Volume:25 ; Issue:12
مصطلحات موضوعية: Laboratory reporting methods, Multi-gene panels, VUS, Variants of uncertain significance
العلاقة: https://doi.org/10.1016/j.gim.2023.100947Test; https://pubmed.ncbi.nlm.nih.gov/37534744Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10825061Test/
الإتاحة: https://doi.org/10.1016/j.gim.2023.100947Test
https://pubmed.ncbi.nlm.nih.gov/37534744Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10825061Test/ -
3دورية أكاديمية
المؤلفون: Schmid, Cosima M, Gregor, Anne, Costain, Gregory, Morel, Chantal F, Massingham, Lauren, Schwab, Jennifer, Quélin, Chloé, Faoucher, Marie, Kaplan, Julie, Procopio, Rebecca, Saunders, Carol J, Cohen, Ana S A, Lemire, Gabrielle, Sacharow, Stephanie, O'Donnell-Luria, Anne, Segal, Ranit Jaron, Kianmahd Shamshoni, Jessica, Schweitzer, Daniela, Ebrahimi-Fakhari, Darius, Monaghan, Kristin, Palculict, Timothy Blake, Napier, Melanie P, Tao, Alice, Isidor, Bertrand, Moradkhani, Kamran, Reis, André, Sticht, Heinrich, Chung, Wendy K, Zweier, Christiane
المصدر: Genet Med ; ISSN:1530-0366 ; Volume:25 ; Issue:7
مصطلحات موضوعية: ASD, Intellectual disability, LHX2, Microcephaly, NDD, Neurodevelopmental disorder
العلاقة: https://doi.org/10.1016/j.gim.2023.100839Test; https://pubmed.ncbi.nlm.nih.gov/37057675Test
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4دورية أكاديمية
المؤلفون: Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Jansen, Sandra, Brunner, Han G., Fisher, Simon E., Campeau, P.M.
المصدر: Snijders Blok , L , Rousseau , J , Twist , J , Ehresmann , S , Takaku , M , Venselaar , H , Rodan , L H , Nowak , C B , Douglas , J , Swoboda , K J , Steeves , M A , Sahai , I , Stumpel , C T R M , Stegmann , A P A , Wheeler , P , Willing , M , Fiala , E , Kochhar , A , Gibson , W T , Cohen , A S A , Agbahovbe , R , Innes , ....
العلاقة: https://cris.maastrichtuniversity.nl/en/publications/ccabbb9c-e5a8-4865-9def-c1e368b21a55Test
الإتاحة: https://doi.org/10.1038/s41467-019-10161-9Test
https://cris.maastrichtuniversity.nl/en/publications/ccabbb9c-e5a8-4865-9def-c1e368b21a55Test -
5دورية أكاديمية
المؤلفون: Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H.
المصدر: Nature Communications ; volume 10, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-019-08800-2Test
https://www.nature.com/articles/s41467-019-08800-2.pdfTest
https://www.nature.com/articles/s41467-019-08800-2Test -
6دورية أكاديمية
المؤلفون: Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, Andre, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L., I, van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
المساهمون: Genetica Klinische Genetica, Brain, MS Gynaecologische Oncologie, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Child Health
مصطلحات موضوعية: General Chemistry, General Biochemistry,Genetics and Molecular Biology, General Physics and Astronomy
وصف الملف: image/pdf
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7دورية أكاديمية
المؤلفون: Prokopuk, Lexie, Stringer, Jessica M, White, Craig R, Vossen, Rolf H A M, White, Stefan J, Cohen, Ana S A, Gibson, William T, Western, Patrick S
المساهمون: Children's Hospital (Vancouver, B.C.). Research Institute
مصطلحات موضوعية: Epigenetic inheritance, Germ, Oocyte, Polycomb, Histone, Weaver, EED, EZH2, Overgrowth, H3K27me3
العلاقة: Clinical Epigenetics. 2018 Jul 13;10(1):95; http://hdl.handle.net/2429/66498Test
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8دورية أكاديمية
المؤلفون: Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance, H, Nowak, Catherine, B., Douglas, Jessica, Swoboda, Kathryn, J, Steeves, Marcie, A, Sahai, Inderneel, Stumpel, Connie, Stegmann, Alexander, Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William, T, Cohen, Ana, S A, Agbahovbe, Ruky, Innes, A. Micheil, Au, P., y Billie, Rankin, Julia, Anderson, Ilse, J, Skinner, Steven, A, Louie, Raymond, J, Warren, Hannah, E, Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong, H, Price, Susan, Schnur, Rhonda, E, Douglas, Ganka, Wentzensen, Ingrid, M, Zweier, Christiane, Reis, André, Bialer, Martin, G, Moore, Christine, Koopmans, Marije, Brilstra, Eva, Monroe, Glen, R, van Gassen, Koen, L, van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes, A, Wortmann, Saskia, Jakielski, Kathy, J, Strand, Edythe, A, Kloth, Katja, Bierhals, Tatjana, Roberts, John, D, Petrovich, Robert, M, Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han, G., Wade, Paul, A, Fisher, Simon, Campeau, Philippe
المساهمون: Radboud University Medical Center Nijmegen, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, CHU Sainte Justine Montréal, Boston Children's Hospital, Massachusetts General Hospital Boston, School for Oncology and Developmental Biology Maastricht (GROW), Maastricht University Maastricht -Maastricht University Medical Centre (MUMC), Maastricht University Maastricht, Maastricht University Medical Centre (MUMC), University of British Columbia (UBC), University of Calgary, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Filière Neuromusculaire (FILNEMUS), Virginia Commonwealth University (VCU), University Medical Center Groningen Groningen (UMCG), Seoul National University Seoul (SNU), Oxford University Hospitals NHS Trust, University of Oxford, Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), University Medical Center Utrecht, University Hospitals Bristol, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM), Helmholtz Zentrum München = German Research Center for Environmental Health, Mayo Clinic Rochester, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Waseda University Tokyo, Japan, Université de Bourgogne (UB), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Department of Human Genetics Nijmegen
المصدر: ISSN: 2041-1723.
مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM]
العلاقة: hal-01922858; https://hal.sorbonne-universite.fr/hal-01922858Test; https://hal.sorbonne-universite.fr/hal-01922858/documentTest; https://hal.sorbonne-universite.fr/hal-01922858/file/s41467-018-06014-6.pdfTest
الإتاحة: https://doi.org/10.1038/s41467-018-06014-6Test
https://hal.sorbonne-universite.fr/hal-01922858Test
https://hal.sorbonne-universite.fr/hal-01922858/documentTest
https://hal.sorbonne-universite.fr/hal-01922858/file/s41467-018-06014-6.pdfTest -
9دورية أكاديمية
المؤلفون: Cohen, Ana S A, Tuysuz, Beyhan, Shen, Yaoqing, Bhalla, Sanjiv K, Jones, Steven J M, Gibson, William T
المصدر: Journal of Human Genetics ; volume 62, issue 2, page 341-342 ; ISSN 1434-5161 1435-232X
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/jhg.2016.156Test
https://www.nature.com/articles/jhg2016156.pdfTest
https://www.nature.com/articles/jhg2016156Test -
10دورية أكاديمية
المؤلفون: do Rosario, Michelle C., Bey, Guillermo Rodriguez, Nmezi, Bruce, Liu, Fang, Oranburg, Talia, Cohen, Ana S. A., Coffman, Keith A., Brown, Maya R., Kiselyov, Kirill, Waisfisz, Quinten, Flohil, Myrthe T., Siddiqui, Shahyan, Rosenfeld, Jill A., Iglesias, Alejandro, Girisha, Katta Mohan, Wolf, Nicole I., Padiath, Quasar Saleem, Shukla, Anju
المصدر: do Rosario , M C , Bey , G R , Nmezi , B , Liu , F , Oranburg , T , Cohen , A S A , Coffman , K A , Brown , M R , Kiselyov , K , Waisfisz , Q , Flohil , M T , Siddiqui , S , Rosenfeld , J A , Iglesias , A , Girisha , K M , Wolf , N I , Padiath , Q S & Shukla , A 2022 , ' Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy ' , Brain ....
الإتاحة: https://doi.org/10.1093/brain/awac295Test
https://research.vumc.nl/en/publications/bd4b99b4-1a18-4aa3-ba33-717576a36829Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85144590060&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/35953447Test