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	21.	Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. [electronic resource] by Preiksaitiene, Egle Voisin, Norine Gueneau, Lucie Benušienė, Eglė Krasovskaja, Natalija Blažytė, Evelina Marija Ambrozaitytė, Laima Rančelis, Tautvydas Reymond, Alexandre Kučinskas, Vaidutis Producer: 20210104 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	De novo 5q35.5 duplication with clinical presentation of Sotos syndrome. [electronic resource] by Kasnauskiene, Jurate Cimbalistiene, Loreta Ciuladaite, Zivile Preiksaitiene, Egle Kučinskienė, Zita Aušrelė Hettinger, Joe A Sismani, Carolina Patsalis, Philippos C Kučinskas, Vaidutis Producer: 20120118 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability? [electronic resource] by Kasnauskiene, Jurate Ciuladaite, Zivile Preiksaitiene, Egle Matulevičienė, Aušra Alexandrou, Angelos Koumbaris, George Sismani, Carolina Pepalytė, Ingrida Patsalis, Philippos C Kučinskas, Vaidutis Producer: 20120822 In: European journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family. [electronic resource] by Siavrienė, Evelina Mikštienė, Violeta Radzevičius, Darius Maldžienė, Živilė Rančelis, Tautvydas Petraitytė, Gunda Tamulytė, Giedrė Kavaliauskienė, Ingrida Šarkinas, Laurynas Utkus, Algirdas Kučinskas, Vaidutis Preikšaitienė, Eglė Producer: 20200526 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. [electronic resource] by 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 Producer: 20160217 In: American journal of medical genetics. Part A vol. 167 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. [electronic resource] by 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, Vaidutis Utkus, Algirdas Producer: 20161019 In: BMC genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. [electronic resource] by Gueneau, Lucie Fish, Richard J Shamseldin, Hanan E Voisin, Norine Tran Mau-Them, Frédéric Preiksaitiene, Egle Monroe, Glen R Lai, Angeline Putoux, Audrey Allias, Fabienne Ambusaidi, Qamariya Ambrozaityte, Laima Cimbalistienė, Loreta Delafontaine, Julien Guex, Nicolas Hashem, Mais Kurdi, Wesam Jamuar, Saumya Shekhar Ying, Lim J Bonnard, Carine Pippucci, Tommaso Pradervand, Sylvain Roechert, Bernd van Hasselt, Peter M Wiederkehr, Michaël Wright, Caroline F Xenarios, Ioannis van Haaften, Gijs Shaw-Smith, Charles Schindewolf, Erica M Neerman-Arbez, Marguerite Sanlaville, Damien Lesca, Gaëtan Guibaud, Laurent Reversade, Bruno Chelly, Jamel Kučinskas, Vaidutis Alkuraya, Fowzan S Reymond, Alexandre Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)