Search Results - Maldžienė, Živilė

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  1. 1
    Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome

    Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome by Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Maldžienė, Živilė, Sasnauskienė, Aušra, Žitkutė, Vilmantė, Ambrozaitytė, Laima, Rančelis, Tautvydas, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė

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  2. 2
    PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation

    PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation by Siavrienė, Evelina, Maldžienė, Živilė, Mikštienė, Violeta, Petraitytė, Gunda, Rančelis, Tautvydas, Dapkūnas, Justas, Burnytė, Birutė, Benušienė, Eglė, Sasnauskienė, Aušra, Grikinienė, Jurgita, Griškevičiūtė, Eglė, Utkus, Algirdas, Preikšaitienė, Eglė

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  3. 3
    Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report

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

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  4. 4
    Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family

    Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family 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

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  5. 5
    Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies

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

    Published in Acta medica Lituanica
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  6. 6
    Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in IMED13L/I Haploinsufficiency Syndrome

    Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in IMED13L/I Haploinsufficiency Syndrome by Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Maldžienė, Živilė, Sasnauskienė, Aušra, Žitkutė, Vilmantė, Ambrozaitytė, Laima, Rančelis, Tautvydas, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė

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  7. 7
    A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

    A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability by Maldžienė, Živilė, Vaitėnienė, Evelina M, Aleksiūnienė, Beata, Utkus, Algirdas, Preikšaitienė, Eglė

    Published in BMC medical genomics
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  8. 8
    A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

    A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report by Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Rančelis, Tautvydas, Maldžienė, Živilė, Morkūnienė, Aušra, Byčkova, Jekaterina, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė

    Published in BMC medical genetics
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  9. 9
    A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2

    A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2 by Siavrienė, Evelina, Preikšaitienė, Eglė, Maldžienė, Živilė, Mikštienė, Violeta, Rančelis, Tautvydas, Ambrozaitytė, Laima, Gueneau, Lucie, Reymond, Alexandre, Kučinskas, Vaidutis

    Published in Gene
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  10. 10
    Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion

    Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion by Preiksaitiene, Egle, Tumienė, Birutė, Maldžienė, Živilė, Pranckevičienė, Erinija, Morkūnienė, Aušra, Utkus, Algirdas, Kučinskas, Vaidutis

    Published in Ophthalmic genetics
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  11. 11
    Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report

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

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  12. 12
    Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion

    Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion by Preiksaitiene, Egle, Tumienė, Birutė, Maldžienė, Živilė, Pranckevičienė, Erinija, Morkūnienė, Aušra, Utkus, Algirdas, Kučinskas, Vaidutis

    Published in Ophthalmic Genetics
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