Literature DB >> 31929335

A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.

Laura A Cross1,2,3, Kirsty McWalter4, Jennifer Keller-Ramey4, Lindsay B Henderson4, Shivarajan M Amudhavalli1,2,3.   

Abstract

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Year:  2020        PMID： 31929335     DOI： 10.1097/MCD.0000000000000316

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  2 in total

1.  Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Authors:  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
Journal:  Genome Med       Date:  2021-05-21       Impact factor: 11.117

Review 2.  Human Mitoribosome Biogenesis and Its Emerging Links to Disease.

Authors:  Maria Isabel G Lopez Sanchez; Annika Krüger; Dmitrii I Shiriaev; Yong Liu; Joanna Rorbach
Journal:  Int J Mol Sci       Date:  2021-04-07       Impact factor: 5.923
  2 in total

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