المؤلفون: Price, Tiffany R., Hodgkinson, Victoria, Westbury, Grace, Korngut, Lawrence, Innes, Micheil A., Marshall, Christian R., Nelson, Tanya N., Huang, Lijia, Parboosingh, Jillian, Mah, Jean K.

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 51, issue 5, page 660-671 ; ISSN 0317-1671 2057-0155

الاتاحة: https://doi.org/10.1017/cjn.2024.1
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167124000015

المؤلفون: Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, Piard, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K E, Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O'Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, Sadikovic, Bekim

المساهمون: Genetica Klinische Genetica, Brain, Child Health

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/438558

الاتاحة: https://dspace.library.uu.nl/handle/1874/438558

المؤلفون: Rajan, Deepa S., Kour, Sukhleen, Fortuna, Tyler R., Cousin, Margot A., Barnett, Sarah S., Niu, Zhiyv, Babovic-Vuksanovic, Dusica, Klee, Eric W., Kirmse, Brian, Innes, Micheil, Rydning, Siri Lynne, Selmer, Kaja Kristine, Vigeland, Magnus Dehli, ERICHSEN, ANNE KJERSTI, Nemeth, Andrea H., Millan, Francisca, DeVile, Catherine, Fawcett, Katherine, Legendre, Adrien, Sims, David, Schnekenberg, Ricardo Parolin, Burglen, Lydie, Mercier, Sandra, Bakhtiari, Somayeh, Francisco-Velilla, Rosario, Embarc-Buh, Azman, Martinez-Salas, Encarnacion, Wigby, Kristen, Lenberg, Jerica, Friedman, Jennifer R., Kruer, Michael C., Pandey, Udai Bhan

المصدر: 2296-634X.

Relation: Rajan, Deepa S. Kour, Sukhleen Fortuna, Tyler R. Cousin, Margot A. Barnett, Sarah S. Niu, Zhiyv Babovic-Vuksanovic, Dusica Klee, Eric W. Kirmse, Brian Innes, Micheil Rydning, Siri Lynne Selmer, Kaja Kristine Vigeland, Magnus Dehli ERICHSEN, ANNE KJERSTI Nemeth, Andrea H. Millan, Francisca DeVile, Catherine Fawcett, Katherine Legendre, Adrien Sims, David Schnekenberg, Ricardo Parolin Burglen, Lydie Mercier, Sandra Bakhtiari, Somayeh Francisco-Velilla, Rosario Embarc-Buh, Azman Martinez-Salas, Encarnacion Wigby, Kristen Lenberg, Jerica Friedman, Jennifer R. Kruer, Michael C. Pandey, Udai Bhan . Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Frontiers in Cell and Developmental Biology. 2022, 10:783762, 1-14; http://hdl.handle.net/10852/101459; 2016407; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Frontiers in Cell and Developmental Biology&rft.volume=10:783762&rft.spage=1&rft.date=2022; Frontiers in Cell and Developmental Biology; 10; https://doi.org/10.3389/fcell.2022.783762

الاتاحة: http://hdl.handle.net/10852/101459
https://doi.org/10.3389/fcell.2022.783762

المؤلفون: Osmond, Matthew, Hartley, Taila, Dyment, David A., Kernohan, Kristin D., Brudno, Michael, Buske, Orion J., Innes, A. Micheil, Boycott, Kym M., Boycott, Kym, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara

المساهمون: Canadian Institutes of Health Research, Genome Canada, Ontario Genomics Institute, Ontario Research Foundation, Genome British Columbia, Genome Alberta, Children's Hospital of Eastern Ontario Foundation

المصدر: Genetics in Medicine ; volume 24, issue 1, page 100-108 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2021.08.014
https://api.elsevier.com/content/article/PII:S109836002101128X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002101128X?httpAccept=text/plain

المؤلفون: Schalk, Audrey, Cousin, Margot A, Dsouza, Nikita R, Challman, Thomas D, Wain, Karen E, Powis, Zoe, Minks, Kelly, Trimouille, Aurélien, Lasseaux, Eulalie, Lacombe, Didier, Angelini, Chloé, Michaud, Vincent, Van-Gils, Julien, Spataro, Nino, Ruiz, Anna, Gabau, Elizabeth, Stolerman, Elliot, Washington, Camerun, Louie, Ray, Lanpher, Brendan C, Kemppainen, Jennifer L, Innes, Micheil, Kooy, Frank, Meuwissen, Marije, Goldenberg, Alice, Lecoquierre, Francois, Vera, Gabriella, Diderich, Karin E M, Sheidley, Beth, El Achkar, Christelle Moufawad, Park, Meredith, Hamdan, Fadi F, Michaud, Jacques L, Lewis, Ann J, Zweier, Christiane, Reis, André, Wagner, Matias, Weigand, Heike, Journel, Hubert, Keren, Boris, Passemard, Sandrine, Mignot, Cyril, van Gassen, Koen, Brilstra, Eva H, Itzikowitz, Gina, O'Heir, Emily, Allen, Jake, Donald, Kirsten A, Korf, Bruce Richard, Skelton, Tammi, Thompson, Michelle, Robin, Nathaniel H, Rudy, Natasha L, Dobyns, William B, Foss, Kimberly, Zarate, Yuri Alexander, Bosanko, Katherine A, Alembik, Yves, Durand, Benjamin, Tran Mau-Them, Frederic, Ranza, Emmanuelle, Blanc, Xavier, Antonarakis, Stylianos E, Mcwalter, Kirsty, Torti, Erin, Millan, Francisca, Dameron, Amy, Tokita, Mari, Zimmermann, Michael T, Klee, Eric W, Piton, Amélie, Gerard, Bénédicte

المساهمون: Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), U01 MH119689

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: hal-03697474; https://hal.science/hal-03697474; https://hal.science/hal-03697474/document; https://hal.science/hal-03697474/file/PDF%20Datastream.pdf

الاتاحة: https://hal.science/hal-03697474
https://hal.science/hal-03697474/document
https://hal.science/hal-03697474/file/PDF%20Datastream.pdf
https://doi.org/10.1136/jmedgenet-2021-107751

المؤلفون: Genetica Klinische Genetica, Brain, Child Health, Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, Piard, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K E, Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O'Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, Sadikovic, Bekim

URL: https://doi.org/10.21203/rs.3.rs-3317938/v1
http://hdl.handle.net/1874/438558
https://dspace.library.uu.nl/handle/1874/438558
Research square

المؤلفون: Schalk, Audrey, Cousin, Margot A, Dsouza, Nikita R, Challman, Thomas D, Wain, Karen E, Powis, Zoe, Minks, Kelly, Trimouille, Aurélien, Lasseaux, Eulalie, Lacombe, Didier, Angelini, Chloé, Michaud, Vincent, Van-Gils, Julien, Spataro, Nino, Ruiz, Anna, Gabau, Elizabeth, Stolerman, Elliot, Washington, Camerun, Louie, Ray, Lanpher, Brendan C, Kemppainen, Jennifer L, Innes, Micheil, Kooy, Frank, Meuwissen, Marije, Goldenberg, Alice, Lecoquierre, Francois, Vera, Gabriella, Diderich, Karin E M, Sheidley, Beth, El Achkar, Christelle Moufawad, Park, Meredith, Hamdan, Fadi F, Michaud, Jacques L, Lewis, Ann J, Zweier, Christiane, Reis, André, Wagner, Matias, Weigand, Heike, Journel, Hubert, Keren, Boris, Passemard, Sandrine, Mignot, Cyril, van Gassen, Koen, Brilstra, Eva H, Itzikowitz, Gina, O'Heir, Emily, Allen, Jake, Donald, Kirsten A, Korf, Bruce Richard, Skelton, Tammi, Thompson, Michelle, Robin, Nathaniel H, Rudy, Natasha L, Dobyns, William B, Foss, Kimberly, Zarate, Yuri Alexander, Bosanko, Katherine A, Alembik, Yves, Durand, Benjamin, Tran Mau-Them, Frederic, Ranza, Emmanuelle, Blanc, Xavier, Antonarakis, Stylianos E, McWalter, Kirsty, Torti, Erin, Millan, Francisca, Dameron, Amy, Tokita, Mari, Zimmermann, Michael T, Klee, Eric W, Piton, Amelie, Gerard, Benedicte

المساهمون: Genetica Sectie Genoomdiagnostiek, Child Health

مصطلحات موضوعية: genetics, medical, microRNA, missense, mutation, nervous system diseases, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/446214

الاتاحة: https://dspace.library.uu.nl/handle/1874/446214

المؤلفون: Genetica Sectie Genoomdiagnostiek, Child Health, Schalk, Audrey, Cousin, Margot A, Dsouza, Nikita R, Challman, Thomas D, Wain, Karen E, Powis, Zoe, Minks, Kelly, Trimouille, Aurélien, Lasseaux, Eulalie, Lacombe, Didier, Angelini, Chloé, Michaud, Vincent, Van-Gils, Julien, Spataro, Nino, Ruiz, Anna, Gabau, Elizabeth, Stolerman, Elliot, Washington, Camerun, Louie, Ray, Lanpher, Brendan C, Kemppainen, Jennifer L, Innes, Micheil, Kooy, Frank, Meuwissen, Marije, Goldenberg, Alice, Lecoquierre, Francois, Vera, Gabriella, Diderich, Karin E M, Sheidley, Beth, El Achkar, Christelle Moufawad, Park, Meredith, Hamdan, Fadi F, Michaud, Jacques L, Lewis, Ann J, Zweier, Christiane, Reis, André, Wagner, Matias, Weigand, Heike, Journel, Hubert, Keren, Boris, Passemard, Sandrine, Mignot, Cyril, van Gassen, Koen, Brilstra, Eva H, Itzikowitz, Gina, O'Heir, Emily, Allen, Jake, Donald, Kirsten A, Korf, Bruce Richard, Skelton, Tammi, Thompson, Michelle, Robin, Nathaniel H, Rudy, Natasha L, Dobyns, William B, Foss, Kimberly, Zarate, Yuri Alexander, Bosanko, Katherine A, Alembik, Yves, Durand, Benjamin, Tran Mau-Them, Frederic, Ranza, Emmanuelle, Blanc, Xavier, Antonarakis, Stylianos E, McWalter, Kirsty, Torti, Erin, Millan, Francisca, Dameron, Amy, Tokita, Mari, Zimmermann, Michael T, Klee, Eric W, Piton, Amelie, Gerard, Benedicte

URL: https://doi.org/10.1136/jmedgenet-2021-107751
http://hdl.handle.net/1874/446214
https://dspace.library.uu.nl/handle/1874/446214
http://www.scopus.com/inward/record.url?scp=85134474339&partnerID=8YFLogxK
0022-2593
Journal of Medical Genetics
59
10
965
975
jmedgenet-2021-107751

المؤلفون: Rajan, Deepa S., Kour, Sukhleen, Fortuna, Tyler R., Cousin, Margot A., Barnett, Sarah S., Niu, Zhiyv, Babovic-Vuksanovic, Dusica, Klee, Eric W., Kirmse, Brian, Innes, Micheil, Rydning, Siri Lynne, Selmer, Kaja Kristine, Vigeland, Magnus Dehli, ERICHSEN, ANNE KJERSTI, Nemeth, Andrea H., Millan, Francisca, DeVile, Catherine, Fawcett, Katherine, Legendre, Adrien, Sims, David, Schnekenberg, Ricardo Parolin, Burglen, Lydie, Mercier, Sandra, Bakhtiari, Somayeh, Francisco-Velilla, Rosario, Embarc-Buh, Azman, Martinez-Salas, Encarnacion, Wigby, Kristen, Lenberg, Jerica, Friedman, Jennifer R., Kruer, Michael C., Pandey, Udai Bhan

المصدر: Rajan, Deepa S. Kour, Sukhleen Fortuna, Tyler R. Cousin, Margot A. Barnett, Sarah S. Niu, Zhiyv Babovic-Vuksanovic, Dusica Klee, Eric W. Kirmse, Brian Innes, Micheil Rydning, Siri Lynne Selmer, Kaja Kristine Vigeland, Magnus Dehli ERICHSEN, ANNE KJERSTI Nemeth, Andrea H. Millan, Francisca DeVile, Catherine Fawcett, Katherine Legendre, Adrien Sims, David Schnekenberg, Ricardo Parolin Burglen, Lydie Mercier, Sandra Bakhtiari, Somayeh Francisco-Velilla, Rosario Embarc-Buh, Azman Martinez-Salas, Encarnacion Wigby, Kristen Lenberg, Jerica Friedman, Jennifer R. Kruer, Michael C. Pandey, Udai Bhan . Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Frontiers in Cell and Developmental Biology. 2022, 10:783762, 1-14
Frontiers in Cell and Developmental Biology

الاتاحة: http://hdl.handle.net/10852/101459

المؤلفون: Whalen, Sandra, Shaw, Marie, Mignot, Cyril, Héron, Delphine, Bastaraud, Sandra Chantot, Walti, Cecile Cieuta, Liebelt, Jan, Elmslie, Frances, Yap, Patrick, Hurst, Jane, Forsythe, Elisabeth, Kirmse, Brian, Ozmore, Jillian, Spinelli, Alessandro Mauro, Calabrese, Olga, de Villemeur, Thierry Billette, Tabet, Anne Claude, Levy, Jonathan, Guet, Agnes, Kossorotoff, Manoëlle, Kamien, Benjamin, Morton, Jenny, McCabe, Anne, Brischoux-Boucher, Elise, Raas-Rothschild, Annick, Pini, Antonella, Carroll, Renée, Hartley, Jessica N., Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies

المساهمون: U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute, GeneDx

المصدر: European Journal of Human Genetics ; volume 29, issue 9, page 1405-1417 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-021-00821-0
https://www.nature.com/articles/s41431-021-00821-0.pdf
https://www.nature.com/articles/s41431-021-00821-0

المؤلفون: Rivas, Anabel Cardenas, Burt, Lauren A., Innes, Micheil, Boyd, Steven K., Kline, Gregory A.

المصدر: Calcified Tissue International ; volume 109, issue 4, page 469-473 ; ISSN 0171-967X 1432-0827

الاتاحة: http://dx.doi.org/10.1007/s00223-021-00857-w
https://link.springer.com/content/pdf/10.1007/s00223-021-00857-w.pdf
https://link.springer.com/article/10.1007/s00223-021-00857-w/fulltext.html

المؤلفون: Sheppard, Sarah, Campbell, Ian, Harr, Margaret, Gold, Nina, Li, Dong, Bjornsson, Hans, Cohen, Julie, Fahrner, Jill, Fatemi, Ali, Harris, Jacqueline, Nowak, Catherine, Stevens, Cathy, Grand, Katheryn, Au, Margaret, Graham, John, Sanchez-Lara, Pedro, Del Campo, Miguel, Jones, Marilyn, Abdul-Rahman, Omar, Alkuraya, Fowzan, Bassetti, Jennifer, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie, Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph, Slavotinek, Anne, Sobering, Andrew, Abbott, Mary-Alice, Allain, Dawn, Amlie-Wolf, Louise, Billie Au, Ping Yee, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin

المصدر: Molecular Genetics and Metabolism ; volume 132, page S183 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/s1096-7192(21)00373-5
https://api.elsevier.com/content/article/PII:S1096719221003735?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719221003735?httpAccept=text/plain

المؤلفون: Gordon, Paul MK, Dimnik, Leo, Lamont, Ryan, Innes, Micheil, Bernier, Francois, Parboosingh, Jillian

المصدر: BMC Proceedings ; volume 6, issue S6 ; ISSN 1753-6561

الاتاحة: http://dx.doi.org/10.1186/1753-6561-6-s6-p42
http://link.springer.com/content/pdf/10.1186/1753-6561-6-S6-P42.pdf
http://link.springer.com/article/10.1186/1753-6561-6-S6-P42/fulltext.html

المؤلفون: Kleefstra, Tjitske, van Zelst-Stams, Wendy A, Nillesen, Willy M, Cormier-Daire, Valerie, Houge, Gunnar, Foulds, Nicola, van Dooren, Marieke, Willemsen, Marjolein H, Pfundt, Rolph, Turner, Anne, Wilson, Meredith, McGaughran, Julie, Rauch, Anita, Zenker, Martin, Adam, Margaret, Innes, Micheil, Davies, Christine, González-Meneses López, Antonio, Casalone, Rosario, Weber, Astrid, Brueton, Louise A, Delicado Navarro, Alicia, Palomares Bralo, Maria, Venselaar, Hanka, Stegmann, Sander P A, Yntema, Helger G, van Bokhoven, Hans, Brunner, Han G

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/jmg.2008.062950v1; http://dx.doi.org/10.1136/jmg.2008.062950

الاتاحة: http://jmg.bmj.com/cgi/content/short/jmg.2008.062950v1
https://doi.org/10.1136/jmg.2008.062950

المؤلفون: Feuk, Lars, Kalervo, Aino, Lipsanen-Nyman, Marita, Skaug, Jennifer, Nakabayashi, Kazuhiko, Finucane, Brenda, Hartung, Danielle, Innes, Micheil, Kerem, Batsheva, Nowaczyk, Małgorzata J., Rivlin, Joseph, Roberts, Wendy, Senman, Lili, Summers, Anne, Szatmari, Peter, Wong, Virginia, Vincent, John B., Zeesman, Susan, Osborne, Lucy R., Cardy, Janis Oram, Kere, Juha, Scherer, Stephen W., Hannula-Jouppi, Katariina

المصدر: The American Journal of Human Genetics ; volume 79, issue 5, page 965-972 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/508902
https://api.elsevier.com/content/article/PII:S0002929707608404?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929707608404?httpAccept=text/plain

المؤلفون: Mattioli, Francesca, Isidor, Bertrand, Abdul-Rahman, Omar, Gunter, Andrew, Huang, Lijia, Kumar, Raman, Beaulieu, Chandree, Gecz, Jozef, Innes, Micheil, Mandel, Jean-Louis, Piton, Amélie

المساهمون: Fondation Jerome Lejeune, Fondation Maladies Rares, Agence Nationale de la Recherche, Investissements d’Avenir

المصدر: Human Molecular Genetics ; volume 28, issue 6, page 952-960 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddy391
http://academic.oup.com/hmg/article-pdf/28/6/952/28011034/ddy391.pdf

المؤلفون: Schalk, Audrey, Cousin, Margot A, Dsouza, Nikita R, Challman, Thomas D, Wain, Karen E, Powis, Zoe, Minks, Kelly, Trimouille, Aurélien, Lasseaux, Eulalie, Lacombe, Didier, Angelini, Chloé, Michaud, Vincent, Van-Gils, Julien, Spataro, Nino, Ruiz, Anna, Gabau, Elizabeth, Stolerman, Elliot, Washington, Camerun, Louie, Ray, Lanpher, Brendan C, Kemppainen, Jennifer L, Innes, Micheil, Kooy, Frank, Meuwissen, Marije, Goldenberg, Alice, Lecoquierre, Francois, Vera, Gabriella, Diderich, Karin E M, Sheidley, Beth, El Achkar, Christelle Moufawad, Park, Meredith, Hamdan, Fadi F, Michaud, Jacques L, Lewis, Ann J, Zweier, Christiane, Reis, André, Wagner, Matias, Weigand, Heike, Journel, Hubert, Keren, Boris, Passemard, Sandrine, Mignot, Cyril, van Gassen, Koen, Brilstra, Eva H, Itzikowitz, Gina, O'Heir, Emily, Allen, Jake, Donald, Kirsten A, Korf, Bruce Richard, Skelton, Tammi, Thompson, Michelle, Robin, Nathaniel H, Rudy, Natasha L, Dobyns, William B, Foss, Kimberly, Zarate, Yuri Alexander, Bosanko, Katherine A, Alembik, Yves, Durand, Benjamin, Tran Mau-them, Frederic, Ranza, Emmanuelle, Blanc, Xavier, Antonarakis, Stylianos E, McWalter, Kirsty, Torti, Erin, Millan, Francisca, Dameron, Amy, Tokita, Mari, Zimmermann, Michael T, Klee, Eric W, Piton, Amelie, Gerard, Benedicte

المصدر: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 10 p965-975, 11p

المؤلفون: Mattioli, Francesca, Isidor, Bertrand, Abdul-Rahman, Omar, Gunter, Andrew, Huang, Lijia, Kumar, Raman, Beaulieu, Chandree, Gecz, Jozef, Innes, Micheil, Mandel, Jean-Louis, Piton, Amélie

المصدر: Human Molecular Genetics; 3/15/2019, Vol. 28 Issue 6, p952-960, 9p

المؤلفون: Ramantani, Georgia, Maillard, Louis Georges, Bast, Thomas, Husain, Ralf A., Niggemann, Pascal, Kohlhase, Jürgen, Hertzberg, Christoph, Ungerath, Kristina, Innes, Micheil A., Walkenhorst, Hartmut, Bevot, Andrea, Stülpnagel, Celina von, Thomas, Kara, Niemann, Frank, Ergun, Mehmet Ali, Tacke, Uta, Häusler, Martin, Ikonomidou, Chrysanthy, Korinthenberg, Rudolf, Lee-Kirsch, Min Ae

المصدر: European Journal of Paediatric Neurology. - 18, 1 (2014) , 30-37, ISSN: 1090-3798

Relation: https://freidok.uni-freiburg.de/data/116428

الاتاحة: https://freidok.uni-freiburg.de/data/116428
https://doi.org/10.1016/j.ejpn.2013.07.005

المؤلفون: Hartley, Taila, Marshall, Deborah, Acker, Meryl, Fooks, Katharine, Gillespie, Meredith K., Price, E. Magda, Graham, Ian D., White-Brown, Alexandre, MacKay, Layla, Macdonald, Stella K., Brady, Lauren, Hui, Angela Y., Andrews, Joseph D., Chowdhury, Ashfia, Wall, Erika, Soubry, Élisabeth, Ediae, Grace U., Rojas, Samantha, Assamad, Daniel, Dyment, David, Tarnopolsky, Mark, Sawyer, Sarah L., Chisholm, Caitlin, Lemire, Gabrielle, Amburgey, Kimberly, Lazier, Joanna, Mendoza-Londono, Roberto, Dowling, James J., Balci, Tugce B., Armour, Christine M., Bhola, Priya T., Costain, Gregory, Dupuis, Lucie, Carter, Melissa, Badalato, Lauren, Richer, Julie, Boswell-Patterson, Christie, Kannu, Peter, Cordeiro, Dawn, Warman-Chardon, Jodi, Graham, Gail, Siu, Victoria Mok, Cytrynbaum, Cheryl, Rusnak, Alison, Aul, Ritu B., Yoon, Grace, Gonorazky, Hernan, McNiven, Vanda, Mercimek-Andrews, Saadet, Guerin, Andrea, Deshwar, Ashish R., Marwaha, Ashish, Weksberg, Rosanna, Karp, Natalya, Campbell, Maggie, Al-Qattan, Sarah, Shuen, Andrew Y., Inbar-Feigenberg, Michal, Cohn, Ronald, Szuto, Anna, Inglese, Cara, Poirier, Myriam, Chad, Lauren, Potter, Beth, Boycott, Kym M., Hayeems, Robin, Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara

المصدر: Genetics in Medicine; February 2024, Vol. 26 Issue: 2