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Nature Reviews. Genetics|July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementAntonie D Kline, Joanna F Moss, Angelo Selicorni, et al.
Clinical Genetics|January 20, 2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers SyndromeLaura Trujillano, Irene Valenzuela, Mar Costa-Roger, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
Genome Announcements|October 4, 2014
Genome Sequence of Lactococcus lactis subsp. lactis NCDO 2118, a GABA-Producing StrainLetícia C Oliveira, Tessália D L Saraiva, Siomar C Soares, et al.
Radiation Research|November 9, 2018
A New Standard DNA Damage (SDD) Data FormatJ Schuemann, A L McNamara, J W Warmenhoven, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Environmental Management|June 26, 2013
Evaluation and selection of indicators for land degradation and desertification monitoring: methodological approachC Kosmas, Or Kairis, Ch Karavitis, et al.
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