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Plos One|April 2, 2019
Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in miceGioia Mastromoro, Giulio Calcagni, Paolo Versacci, et al.
Clinical Genetics|October 1, 2019
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3Jirko Kühnisch, Christopher Herbst, Nadya Al-Wakeel-Marquard, et al.
American Journal of Medical Genetics. Part A|December 31, 2021
Congenital heart defects in molecularly confirmed KBG syndrome patientsMaria Cristina Digilio, Giulio Calcagni, Maria Gnazzo, et al.
European Journal of Medical Genetics|July 6, 2020
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variantsFanny Kortüm, Marcello Niceta, Monia Magliozzi, et al.
European Journal of Human Genetics : EJHG|July 9, 2026
Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statementJack F G Underwood, Katherine W Timothy, Holly Tyroll, et al.
European Journal of Immunology|November 19, 2016
Human B-cell memory is shaped by age- and tissue-specific T-independent and GC-dependent eventsAlaitz Aranburu, Eva Piano Mortari, Anwar Baban, et al.
Research Square|December 3, 2025
Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus StatementJack F G Underwood, Katherine W Timothy, Holly Tyroll, et al.
Biomolecules|June 2, 2021
Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic CoarctationMartina Caiazza, Michele Lioncino, Emanuele Monda, et al.
BMC Medical Genetics|November 26, 2016
Assessment of copy number variations in 120 patients with Poland syndromeCarlotta Maria Vaccari, Elisa Tassano, Michele Torre, et al.
American Journal of Medical Genetics. Part A|March 4, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patientsMaria Gnazzo, Francesca R Lepri, Maria Lisa Dentici, et al.
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