日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Spectrum of genetic variants detected in children tested for long QT syndrome

在接受长QT综合征检测的儿童中检测到的遗传变异谱

Kemezyte, Aurelija; Meskiene, Raimonda; Utkus, Algirdas; Burnyte, Birute

Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients

立陶宛家族性高胆固醇血症患者的遗传谱

Aliosaitiene, Urte; Cerkauskiene, Rimante; Laucevicius, Aleksandras; Vilniskyte, Migle; Sutkus, Viktoras; Mainelis, Antanas; Burnyte, Birute; Barysiene, Jurate; Petrulioniene, Zaneta

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

假性常染色体糖基化障碍促使多萜醇生物合成途径发生改变

Matthew P Wilson,Takfarinas Kentache,Charlotte R Althoff,Céline Schulz,Geoffroy de Bettignies,Gisèle Mateu Cabrera,Loreta Cimbalistiene,Birute Burnyte,Grace Yoon,Gregory Costain,Sandrine Vuillaumier-Barrot,David Cheillan,Daisy Rymen,Lucie Rychtarova,Hana Hansikova,Marina Bury,Joseph P Dewulf,Francesco Caligiore,Jaak Jaeken,Vincent Cantagrel,Emile Van Schaftingen,Gert Matthijs,François Foulquier,Guido T Bommer

Unraveling the Pathogenetic Mechanisms Underlying the Association between Specific Mitochondrial DNA Haplogroups and Parkinson's Disease

揭示特定线粒体 DNA 单倍群与帕金森病之间关联的致病机制

Min-Yu Lan, Tsu-Kung Lin, Baiba Lace, Algirdas Utkus, Birute Burnyte, Kristina Grigalioniene, Yu-Han Lin, Inna Inashkina, Chia-Wei Liou

Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated Disease

PNPLA8相关疾病家族中的小脑共济失调和周围神经病变

Burnyte, Birute; Vilimiene, Ramune; Grigalioniene, Kristina; Adomaitiene, Irina; Utkus, Algirdas

Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome

早发型马凡综合征的基因型-表型谱及预后

Kemezyte, Aurelija; Gegieckiene, Ruta; Burnyte, Birute

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling

立陶宛的 HINT1 神经病变:临床、遗传和功能分析

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 #, Kristie

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

需要重新评估A2ML1变异在努南综合征中的临床意义。

Brinkmann, Julia; Lissewski, Christina; Pinna, Valentina; Vial, Yoann; Pantaleoni, Francesca; Lepri, Francesca; Daniele, Paola; Burnyte, Birute; Cuturilo, Goran; Fauth, Christine; Gezdirici, Alper; Kotzot, Dieter; Güleç, Elif Yılmaz; Iotova, Violeta; Schanze, Denny; Ramond, Francis; Havlovicová, Markéta; Utine, Gulen Eda; Simsek-Kiper, Pelin Ozlem; Stoyanova, Milena; Verloes, Alain; De Luca, Alessandro; Tartaglia, Marco; Cavé, Hélène; Zenker, Martin

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

欧洲和非欧洲国家中与种族相关的DMD基因型分布

Selvatici, Rita; Rossi, Rachele; Fortunato, Fernanda; Trabanelli, Cecilia; Sifi, Yamina; Margutti, Alice; Neri, Marcella; Gualandi, Francesca; Szabò, Lena; Fekete, Balint; Angelova, Lyudmilla; Litvinenko, Ivan; Ivanov, Ivan; Vildan, Yurtsever; Iuhas, Oana Alexandra; Vintan, Mihaela; Burloiu, Carmen; Lacramioara, Butnariu; Visa, Gabriela; Epure, Diana; Rusu, Cristina; Vasile, Daniela; Sandu, Magdalena; Vlodavets, Dmitry; Mager, Monica; Kyriakides, Theodore; Delin, Sanja; Lehman, Ivan; Fureš, Jadranka Sekelj; Bojinova, Veneta; Militaru, Mariela; Guergueltcheva, Velina; Burnyte, Birute; Molnar, Maria Judith; Butoianu, Niculina; Bensemmane, Selma Dounia; Makri-Mokrane, Samira; Herczegfalvi, Agnes; Panzaru, Monica; Emandi, Adela Chirita; Lusakowska, Anna; Potulska-Chromik, Anna; Kostera-Pruszczyk, Anna; Shatillo, Andriy; Khelladi, Djawed Bouchenak; Dendane, Oussama; Fang, Mingyan; Lu, Zhiyuan; Ferlini, Alessandra

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

一项检测即可解决所有问题:全外显子组测序显著提高了因生长发育迟缓而接受Silver-Russell综合征分子检测的患者的诊断率。

Meyer, Robert; Begemann, Matthias; Hübner, Christian Thomas; Dey, Daniela; Kuechler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaityte, Laima; Burnyte, Birute; Schröder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas