Hasil Pencarian - Laima Ambrozaitytė
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Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease oleh Kristina Grigalionienė, Birutė Burnytė, Laima Ambrozaitytė, Algirdas Utkus
Diterbitkan 2023-10-01
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Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion oleh Kristina Grigalionienė, Birutė Burnytė, Danutė Balkelienė, Laima Ambrozaitytė, Algirdas Utkus
Diterbitkan 2023-01-01
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Insights Into de novo Mutation Variation in Lithuanian Exome oleh Laura Pranckėnienė, Audronė Jakaitienė, Laima Ambrozaitytė, Ingrida Kavaliauskienė, Vaidutis Kučinskas
Diterbitkan 2018-08-01
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X-linked juvenile retinoschisis: phenotypic and genetic characterization oleh Rasa Strupaitė, Laima Ambrozaitytė, Loreta Cimbalistienė, Rimvydas Ašoklis, Algirdas Utkus
Diterbitkan 2018-11-01
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Identifying Genomic Signatures of Positive Selection to Predict Protective Genomic Loci in the Cohort of Lithuanian Clean-Up Workers of the Chornobyl Nuclear Disaster oleh Gabrielė Žukauskaitė, Ingrida Domarkienė, Aušra Matulevičienė, Svetlana Dauengauer-Kirlienė, Vaidutis Kučinskas, Laima Ambrozaitytė
Diterbitkan 2023-04-01
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Psychological distress 35 years after the Chornobyl accident in the Lithuanian clean-up workers oleh Evaldas Kazlauskas, Giedre Smailyte, Ingrida Domarkienė, Vaidutis Kučinskas, Aušra Matulevičienė, Ask Elklit, Gabrielė Žukauskaitė, Laima Ambrozaitytė
Diterbitkan 2023-12-01
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Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies oleh Eglė Preikšaitienė, Laima Ambrozaitytė, Živilė Maldžienė, Aušra Morkūnienė, Loreta Cimbalistienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas
Diterbitkan 2016-07-01
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Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in <i>MED13L</i> Haploinsufficiency Syndrome oleh Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Živilė Maldžienė, Aušra Sasnauskienė, Vilmantė Žitkutė, Laima Ambrozaitytė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
Diterbitkan 2023-06-01
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CyberGenomics: Application of Behavioral Genetics in Cybersecurity oleh Ingrida Domarkienė, Laima Ambrozaitytė, Linas Bukauskas, Tautvydas Rančelis, Stefan Sütterlin, Benjamin James Knox, Kaie Maennel, Olaf Maennel, Karen Parish, Ricardo Gregorio Lugo, Agnė Brilingaitė
Diterbitkan 2021-11-01
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Donor Splice Site Variant in <i>SLC9A6</i> Causes Christianson Syndrome in a Lithuanian Family: A Case Report oleh 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
Diterbitkan 2022-02-01
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Higher levels of plasma Adrenocorticotropic hormone (ACTH) are associated with lower suicidal ideation in depressed patients compared to controls and suicide attempters, independen... oleh Robertas Strumila, Aiste Lengvenyte, Linas Zdanavicius, Robertas Badaras, Edgaras Dlugauskas, Sigita Lesinskiene, Eimantas Matiekus, Martynas Marcinkevicius, Lina Venceviciene, Algirdas Utkus, Andrius Kaminskas, Tomas Petrenas, Jurgita Songailiene, Dalius Vitkus, Laima Ambrozaityte
Diterbitkan 2024-08-01
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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome oleh Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht, Thomas Eggermann
Diterbitkan 2021-01-01
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HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling oleh Matilde Malcorps, Silvia Amor-Barris, Birute Burnyte, Ramune Vilimiene, Camila Armirola-Ricaurte, Kristina Grigalioniene, Alexandra Ekshteyn, Ausra Morkuniene, Arunas Vaitkevicius, Els De Vriendt, Jonathan Baets, Steven S. Scherer, Laima Ambrozaityte, Algirdas Utkus, Albena Jordanova, Kristien Peeters
Diterbitkan 2022-10-01
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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis oleh Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer
Diterbitkan 2024-08-01
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