Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Guyader, Gwenael Le"'
2
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
3
Additional file 4 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Autor: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, Lessel, Davor
Additional file 4: Figure S2. De novo mosaicism in individual 6.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::235a1f8591f9ccfba121e151fc6ad70b
Zobrazit plný text záznamu
4
Additional file 6 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Autor: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, Lessel, Davor
Additional file 6. Clinical reports of here presented individuals.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20f2d188b2d1c7ebca1c684fc2cfa73b
Zobrazit plný text záznamu
5
Additional file 5 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Autor: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, Lessel, Davor
Additional file 5: Figure S3. Whole gene deletion in individual 24.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46b555563b16870c6959d2d4ddc46bb1
Zobrazit plný text záznamu
6
Additional file 8 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Autor: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, Lessel, Davor
Additional file 8: Figure S5. Recombinant protein variants of DHX30 induce the formation of cytoplasmic clusters.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70e5496c90d86f8b61e9219a446ec57a
Zobrazit plný text záznamu
7
Additional file 1 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Autor: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, Lessel, Davor
Additional file 1. Supplementary methods.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::618ab2f194ef4403554cae0e481efb69
Zobrazit plný text záznamu
8
Additional file 7 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Autor: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, Lessel, Davor
Additional file 7: Figure S4. DHX30 WT acts as an ATP-dependent RNA helicase.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22e0e3964e3c15e665dba238a1b8633d
Zobrazit plný text záznamu
9
Additional file 3 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Autor: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, Lessel, Davor
Additional file 3: Figure S1. Identified missense variants affect highly conserved amino acids.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a881b22e39e5b32c9fb44e209a57c3e
Zobrazit plný text záznamu
10
Additional file 9 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Autor: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, Lessel, Davor
Additional file 9: Figure S6. Representative images of zebrafish embryos.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909a5bf89ea8f093baeb784ba5ba11f4
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje