المؤلفون: Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel

المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/c447334b912746929ee920eb4139f48f

المؤلفون: Xavier Solanich, Gardenia Vargas-Parra, Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Arnau Antolí, Jesús del Valle, Gemma Rocamora-Blanch, Fernando Setién, Manel Esteller, Simon V. van Reijmersdal, Antoni Riera-Mestre, Joan Sabater-Riera, Gabriel Capellá, Frank L. van de Veerdonk, Ben van der Hoven, Xavier Corbella, Alexander Hoischen, Conxi Lázaro

المصدر: Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: COVID-19, SARS-CoV-2, host genetics, TLR7, immunodeficiency, genetic screening, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.719115/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/a40c83c79e0d437386a867c3022a1699

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_5_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643218

الاتاحة: https://doi.org/10.6084/m9.figshare.14643218.v1

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_7_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643230

الاتاحة: https://doi.org/10.6084/m9.figshare.14643230.v1

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_10_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643194

الاتاحة: https://doi.org/10.6084/m9.figshare.14643194.v1

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643209

الاتاحة: https://doi.org/10.6084/m9.figshare.14643209.v1

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_4_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643212

الاتاحة: https://doi.org/10.6084/m9.figshare.14643212.v1

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_8_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643233

الاتاحة: https://doi.org/10.6084/m9.figshare.14643233.v1

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_6_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643224

الاتاحة: https://doi.org/10.6084/m9.figshare.14643224.v1

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_9_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643236

الاتاحة: https://doi.org/10.6084/m9.figshare.14643236.v1

المؤلفون: Alexander J M Dingemans, Max Hinne, Kim M G Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W van Bon, Noraly Jonis, Charlotte Ockeloen, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Hilde Van Esch, Gholson J Lyon, Fowzan S Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Marcel A J van Gerven, Lisenka E L M Vissers, Bert B A de Vries

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bd22bb951772c3e14bec8543a332a92a
https://doi.org/10.1101/2022.10.24.22281480

المؤلفون: Linda A.J. Hendricks, Janneke Schuurs-Hoeijmakers, Isabel Spier, Maaike L. Haadsma, Astrid Eijkelenboom, Kirsten Cremer, Arjen R. Mensenkamp, Stefan Aretz, Janet R. Vos, Nicoline Hoogerbrugge

المصدر: European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 7

مصطلحات موضوعية: Adult, Male, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Adolescent, Mosaicism, Developmental Disabilities, PTEN Phosphohydrolase, High-Throughput Nucleotide Sequencing, General Medicine, Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], Megalencephaly, Young Adult, Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], Genetics, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Humans, Female, Child, Hamartoma Syndrome, Multiple, Genetics (clinical), Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65546b367a741575f6cdd9333d67c749
http://hdl.handle.net/2066/251977

المؤلفون: Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Guus van den Heuvel, Tuomo Mantere, Simone Kersten, Rosanne C. van Deuren, Marloes Steehouwer, Simon V. van Reijmersdal, Martin Jaeger, Tom Hofste, Galuh Astuti, Jordi Corominas Galbany, Vyne van der Schoot, Hans van der Hoeven, Wanda Hagmolen of ten Have, Eva Klijn, Catrien van den Meer, Jeroen Fiddelaers, Quirijn de Mast, Chantal P. Bleeker-Rovers, Leo A. B. Joosten, Helger G. Yntema, Christian Gilissen, Marcel Nelen, Jos W. M. van der Meer, Han G. Brunner, Mihai G. Netea, Frank L. van de Veerdonk, Alexander Hoischen

المساهمون: Intensive Care, MUMC+: DA KG Polikliniek (9), MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Jama : Journal of the American Medical Association, 324, 7, pp. 663-673
Jama : Journal of the American Medical Association, 324, 663-673
JAMA-Journal of the American Medical Association, 324(7), 663-673. American Medical Association
JAMA

مصطلحات موضوعية: Adult, Male, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Enzyme-Linked Immunosorbent Assay, Imiquimod, SARS-COV-2, Real-Time Polymerase Chain Reaction, 01 natural sciences, Peripheral blood mononuclear cell, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Pathogenesis, Young Adult, 03 medical and health sciences, Cancer development and immune defence Radboud Institute for Health Sciences [Radboudumc 2], Fatal Outcome, 0302 clinical medicine, Immune system, All institutes and research themes of the Radboud University Medical Center, Loss of Function Mutation, medicine, Humans, Missense mutation, Medical history, 030212 general & internal medicine, 0101 mathematics, Young adult, Respiratory system, Netherlands, SARS, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, 010102 general mathematics, Other Research Radboud Institute for Health Sciences [Radboudumc 0], COVID-19, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Pedigree, 3. Good health, Hospitalization, Intensive Care Units, INSIGHTS, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], Immunology, Leukocytes, Mononuclear, RNA, Viral, business, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200155b69006dec2e09eb1bfe979005f
https://hdl.handle.net/2066/222168

المؤلفون: Xavier, Solanich, Gardenia, Vargas-Parra, Caspar I, van der Made, Annet, Simons, Janneke, Schuurs-Hoeijmakers, Arnau, Antolí, Jesús, Del Valle, Gemma, Rocamora-Blanch, Fernando, Setién, Manel, Esteller, Simon V, van Reijmersdal, Antoni, Riera-Mestre, Joan, Sabater-Riera, Gabriel, Capellá, Frank L, van de Veerdonk, Ben, van der Hoven, Xavier, Corbella, Alexander, Hoischen, Conxi, Lázaro

المصدر: Frontiers in Immunology

مصطلحات موضوعية: Adult, Male, SARS-CoV-2, Immunology, Mutation, Missense, COVID-19, genetic screening, Middle Aged, Severity of Illness Index, Amino Acid Substitution, Toll-Like Receptor 7, host genetics, Risk Factors, Humans, Genetic Testing, immunodeficiency, Original Research, TLR7

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7a94e3e470c7fe11803802d7fb0c8c5e
https://pubmed.ncbi.nlm.nih.gov/34367187

المؤلفون: Xavier Solanich (7447049), Gardenia Vargas-Parra (8059475), Caspar I. van der Made (11175282), Annet Simons (3535337), Janneke Schuurs-Hoeijmakers (3546701), Arnau Antolí (10965552), Jesús del Valle (11175285), Gemma Rocamora-Blanch (10965555), Fernando Setién (4858804), Manel Esteller (74345), Simon V. van Reijmersdal (11175288), Antoni Riera-Mestre (9922520), Joan Sabater-Riera (11175291), Gabriel Capellá (32853), Frank L. van de Veerdonk (9983587), Ben van der Hoven (11175294), Xavier Corbella (3399788), Alexander Hoischen (195016), Conxi Lázaro (142579)

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, COVID-19, SARS-CoV-2, host genetics, TLR7, immunodeficiency, genetic screening

Relation: https://figshare.com/articles/dataset/DataSheet_1_Genetic_Screening_for_TLR7_Variants_in_Young_and_Previously_Healthy_Men_With_Severe_COVID-19_pdf/15041883

الاتاحة: https://doi.org/10.3389/fimmu.2021.719115.s001

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/dataset/Additional_file_2_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643203

الاتاحة: https://doi.org/10.6084/m9.figshare.14643203.v1