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Rezultati
New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies
[2020]
Zečević, Nebojša 
; Arsenijević, Vladimir; Manolakos, Emmanouil; Papoulidis, Ioannis; Theocharis, Georgios; Sartsidis, Anastasios; Tryfon, Tsagas Tryfon; Tziotis, Ioannis; Dagklis, Themistoklis; Kalogeros, Georgios;
Tsakiridis, Ioannis; Filipović-Stanković, Milica; Eleftheriades, Makarios;
A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation [2022]
Dincsoy, Bir Firdevs; Silan, Fatma; Velickovic, Jelena; Berkay, Akcan Mehmet; Ozdemir, OzturkФилтери
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