1. 16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay. Issue 4 (October 2019) Authors: Maldžienė, Živilė; Bulanovaitė, Elena; Aleksiūnienė, Beata; Utkus, Algirdas; Preiksaitiene, Egle Journal: Clinical dysmorphology Issue: Volume 28:Issue 4(2019:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability. Issue 6 (30th April 2013) Authors: Kasnauskiene, Jurate; Ciuladaite, Zivile; Preiksaitiene, Egle; Utkus, Algirdas; Peciulyte, Agnė; Kučinskas, Vaidutis Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome. (21st April 2015) Authors: Preiksaitiene, Egle; Caro, Alfonso; Benušienė, Eglė; Oltra, Silvestre; Orellana, Carmen; Morkūnienė, Aušra; Roselló, Mónica Pilar; Kasnauskiene, Jurate; Monfort, Sandra; Kučinskas, Vaidutis; Mayo, Sonia; Martinez, Francisco Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1342 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Case Report of Extremely Rare Autosomal Recessive Familial Hypercholesterolemia. (June 2018) Authors: Petrulioniene, Zaneta; Skiauteryte, Egle; Gargalskaite, Urte; Kutkiene, Sandra; Rinkuniene, Egidija; Dzenkeviciute, Vilma; Mikstiene, Violeta; Preiksaitiene, Egle; Norvilas, Rimvydas; Griskevicius, Antanas; Petrulionyte, Ema; Utkus, Algirdas Journal: Atherosclerosis Issue: Volume 32(2018) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ETV6 and NOTCH1 germline variants in adult acute leukemia. Issue 4 (3rd April 2018) Authors: Dirse, Vaidas; Norvilas, Rimvydas; Gineikiene, Egle; Matuzevičienė, Rėda; Griskevicius, Laimonas; Preiksaitiene, Egle Journal: Leukemia & lymphoma Issue: Volume 59:Issue 4(2018) Page Start: 1022 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion. (4th July 2017) Authors: Preiksaitiene, Egle; Tumienė, Birutė; Maldžienė, Živilė; Pranckevičienė, Erinija; Morkūnienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis Journal: Ophthalmic genetics Issue: Volume 38:Number 4(2017) Page Start: 383 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. Issue 3 (12th December 2019) Authors: Preiksaitiene, Egle; Voisin, Norine; Gueneau, Lucie; Benušienė, Eglė; Krasovskaja, Natalija; Blažytė, Evelina Marija; Ambrozaitytė, Laima; Rančelis, Tautvydas; Reymond, Alexandre; Kučinskas, Vaidutis Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 536 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. Issue 1 (January 2015) Authors: Preiksaitiene, Egle; Krasovskaja, Natalija; Utkus, Algirdas; Kasnauskiene, Jurate; Meškienė, Raimonda; Paulauskiene, Iveta; Valevičienė, Nomeda R.; Kučinskas, Vaidutis Journal: Clinical dysmorphology Issue: Volume 24:Issue 1(2015:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings. Issue 3 (24th November 2015) Authors: Preiksaitiene, Egle; Benušienė, Eglė; Matulevičienė, Aušra; Grigalionienė, Kristina; Utkus, Algirdas; Kučinskas, Vaidutis Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 781 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. Issue 1 (December 2016) Authors: Mikstiene, Violeta; Jakaitiene, Audrone; Byckova, Jekaterina; Gradauskiene, Egle; Preiksaitiene, Egle; Burnyte, Birute; Tumiene, Birute; Matuleviciene, Ausra; Ambrozaityte, Laima; Uktveryte, Ingrida; Domarkiene, Ingrida; Rancelis, Tautvydas; Cimbalistiene, Loreta; Lesinskas, Eugenijus; Kucinskas,... Journal: BMC genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗