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_1_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643200

الاتاحة: https://doi.org/10.6084/m9.figshare.14643200.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: 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

المؤلفون: Ulrike Hüffmeier (8830046), Cornelia Kraus (3272667), Miriam S. Reuter (9377699), Steffen Uebe (390051), Mary-Alice Abbott (10329659), Syed A. Ahmed (10329662), Kristyn L. Rawson (10329665), Eileen Barr (10329668), Hong Li (20183), Ange-Line Bruel (3178743), Laurence Faivre (397333), Frédéric Tran Mau-Them (10329671), Christina Botti (10329674), Susan Brooks (10329677), Kaitlyn Burns (10329680), D. Isum Ward (10329683), Marina Dutra-Clarke (5940176), Julian A. Martinez-Agosto (10329686), Hane Lee (253935), Stanley F. Nelson (10329689), Pia Zacher (10329692), Rami Abou Jamra (558384), Chiara Klöckner (10329695), Julie McGaughran (3862957), Jürgen Kohlhase (10329698), Sarah Schuhmann (10329701), Ellen Moran (2633275), John Pappas (10329704), Annick Raas-Rothschild (6873299), Maria J. Guillen Sacoto (10329707), Lindsay B. Henderson (10329710), Timothy Blake Palculict (10329713), Sureni V. Mullegama (10329716), Houda Zghal Elloumi (10329719), Adi Reich (10329722), Samantha A. Schrier Vergano (10329725), Erica Wahl (10329728), André Reis (166910), Christiane Zweier (478497)

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Sociology, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone

Relation: https://figshare.com/articles/dataset/Additional_file_1_of_EIF3F-related_neurodevelopmental_disorder_refining_the_phenotypic_and_expanding_the_molecular_spectrum/14247620

الاتاحة: https://doi.org/10.6084/m9.figshare.14247620.v1

المؤلفون: Ulrike Hüffmeier (8830046), Cornelia Kraus (3272667), Miriam S. Reuter (9377699), Steffen Uebe (390051), Mary-Alice Abbott (10329659), Syed A. Ahmed (10329662), Kristyn L. Rawson (10329665), Eileen Barr (10329668), Hong Li (20183), Ange-Line Bruel (3178743), Laurence Faivre (397333), Frédéric Tran Mau-Them (10329671), Christina Botti (10329674), Susan Brooks (10329677), Kaitlyn Burns (10329680), D. Isum Ward (10329683), Marina Dutra-Clarke (5940176), Julian A. Martinez-Agosto (10329686), Hane Lee (253935), Stanley F. Nelson (10329689), Pia Zacher (10329692), Rami Abou Jamra (558384), Chiara Klöckner (10329695), Julie McGaughran (3862957), Jürgen Kohlhase (10329698), Sarah Schuhmann (10329701), Ellen Moran (2633275), John Pappas (10329704), Annick Raas-Rothschild (6873299), Maria J. Guillen Sacoto (10329707), Lindsay B. Henderson (10329710), Timothy Blake Palculict (10329713), Sureni V. Mullegama (10329716), Houda Zghal Elloumi (10329719), Adi Reich (10329722), Samantha A. Schrier Vergano (10329725), Erica Wahl (10329728), André Reis (166910), Christiane Zweier (478497)

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Sociology, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone

Relation: https://figshare.com/articles/figure/Additional_file_2_of_EIF3F-related_neurodevelopmental_disorder_refining_the_phenotypic_and_expanding_the_molecular_spectrum/14247623

الاتاحة: https://doi.org/10.6084/m9.figshare.14247623.v1