Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopm...
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
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Author / Creator
Mannucci, Ilaria , Dang, Nghi D. P. , Huber, Hannes , Murry, Jaclyn B. , Abramson, Jeff , Althoff, Thorsten , Banka, Siddharth , Baynam, Gareth , Bearden, David , Beleza-Meireles, Ana , Benke, Paul J. , Berland, Siren , Bierhals, Tatjana , Bilan, Frederic , Bindoff, Laurence A. , Braathen, Geir Julius , Busk, Øyvind L. , Chenbhanich, Jirat , 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 , Le Guyader, Gwenael , 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 , Randrianaivo, Hanitra , 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 , Kreienkamp, Hans-Jürgen and Lessel, Davor
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder.
Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. We investigated the impact of novel miss...
Alternative Titles
Full title
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Authors, Artists and Contributors
Author / Creator
Dang, Nghi D. P.
Huber, Hannes
Murry, Jaclyn B.
Abramson, Jeff
Althoff, Thorsten
Banka, Siddharth
Baynam, Gareth
Bearden, David
Beleza-Meireles, Ana
Benke, Paul J.
Berland, Siren
Bierhals, Tatjana
Bilan, Frederic
Bindoff, Laurence A.
Braathen, Geir Julius
Busk, Øyvind L.
Chenbhanich, Jirat
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
Le Guyader, Gwenael
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
Randrianaivo, Hanitra
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
Kreienkamp, Hans-Jürgen
Lessel, Davor
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_c447334b912746929ee920eb4139f48f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c447334b912746929ee920eb4139f48f
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-021-00900-3
