Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseases by Tautvydas Rančelis, Loreta Cimbalistienė, Vaidutis Kučinskas

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Report of Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and thrombocytopenia by Vaidas DIRSĖ, Loreta CIMBALISTIENĖ, Jūratė KASNAUSKIENĖ, Vaidutis KUČINSKAS

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X-linked juvenile retinoschisis: phenotypic and genetic characterization by Rasa Strupaitė, Laima Ambrozaitytė, Loreta Cimbalistienė, Rimvydas Ašoklis, Algirdas Utkus

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Diagnostic Significance of FNAB miRNA Expression in Papillary Thyroid Carcinoma by Romena Laukienė, Laima Ambrozaityte, Loreta Cimbalistienė, Algirdas Utkus, Algirdas Edvardas Tamosiunas

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Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies by Eglė Preikšaitienė, Laima Ambrozaitytė, Živilė Maldžienė, Aušra Morkūnienė, Loreta Cimbalistienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas

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Donor Splice Site Variant in <i>SLC9A6</i> Causes Christianson Syndrome in a Lithuanian Family: A Case Report by Gunda Petraitytė, Violeta Mikštienė, Evelina Siavrienė, Loreta Cimbalistienė, Živilė Maldžienė, Tautvydas Rančelis, Evelina Marija Vaitėnienė, Laima Ambrozaitytė, Justas Dapkūnas, Ramūnas Dzindzalieta, Erinija Pranckevičienė, Vaidutis Kučinskas, Algirdas Utkus, Eglė Preikšaitienė

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