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European Journal of Human Genetics : EJHG|October 30, 2014
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3Annalisa Vetro, Mohammad Reza Dehghani, Lilia Kraoua, et al.
Human Genetics|October 3, 2018
De novo unbalanced translocations have a complex history/aetiologyMaria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, et al.
Frontiers in Immunology|October 31, 2022
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitisRoberto Littera, Andrea Perra, Michela Miglianti, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Nature Communications|October 30, 2022
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomesRobert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, et al.
Kidney International|February 25, 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosisViviana Palazzo, Aldesia Provenzano, Francesca Becherucci, et al.
Journal of Medical Genetics|November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
Plos One|August 5, 2021
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infectionRoberto Littera, Luchino Chessa, Silvia Deidda, et al.
Science Translational Medicine|March 28, 2020
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cellsAnna Julie Peired, Giulia Antonelli, Maria Lucia Angelotti, et al.
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