Gita Taurina - Bernu Kliniska Universitates Slimnica

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Bio

Gita Taurina currently works at the Medical Genetic and prenatal diagnostic department, Bernu Kliniska Universitates Slimnica. Gita does research in Genetic Epidemiology. Their most recent publication is '6 CFTR dele2,3 (21 kb) mutation in cystic fibrosis patients in Latvia'.

Research Interests

Papers共 22 篇Author StatisticsCo-AuthorSimilar Experts

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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,James Collins,Cuixia Tian,Payam Mohassel,Sarah B Neuhaus,Dimah Saade,Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak,Sidney M Gospe,Vikram Bhise,Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata,Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa,Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou,Sara Aguti,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

medRxiv : the preprint server for health sciences（2024）

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Exploring the Role of the SHH Gene in Development: A Case Report of Two Children with Variant of Uncertain Significance

Marija Rozevska, Baiba Lace,Ieva Micule, Ieva Grinfelde,Daiga Murmane, Dzintra Locmele, Madara Masinska, Ilona Piruska, Laura Skrabule,Gita Taurina

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 230-230

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies Through Sequencing of 105 Disease-Associated Genes

Rebekkah J. Hitti-Malin,Daan M. Panneman,Zelia Corradi,Erica G. M. Boonen,Galuh Astuti,Claire-Marie Dhaenens,Heidi Stoehr,Bernhard H. F. Weber,Dror Sharon,Eyal Banin,Marianthi Karali,Sandro Banfi,Tamar Ben-Yosef,Damjan Glavac,G. Jane Farrar,Carmen Ayuso,Petra Liskova,Lubica Dudakova,Marie Vajter,Monika Oldak,Jacek P. Szaflik,Anna Matynia,Michael B. Gorin, Kati Kaempjaervi,Miriam Bauwens,Elfride De Baere,Carel B. Hoyng,Catherina H. Z. Li,Caroline C. W. Klaver,Chris F. Inglehearn,Kaoru Fujinami,Carlo Rivolta,Rando Allikmets,Jana Zernant,Winston Lee,Osvaldo L. Podhajcer,Ana Fakin,Jana Sajovic,Alaa Altalbishi,Sandra Valeina,Gita Taurina,Andrea L. Vincent,Lisa Roberts,Raj Ramesar,Giovanna Sartor,Elena Luppi,Susan M. Downes,L. Ingeborgh van den Born,Terri L. Mclaren,John N. De Roach,Tina M. Lamey,Jennifer A. Thompson,Fred K. Chen,Anna M. Tracewska,Smaragda Kamakari,Juliana Maria Ferraz Sallum,Hanno J. Bolz,Huelya Kayserili,Susanne Roosing,Frans P. M. Cremers

BIOMOLECULESno. 3 (2024)

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Laboratory Challenges by the Interpretation of Slightly Decreased Branched Chain Amino Acids Concentrations: A Case of BCKDK Deficiency

Andzela Lazdane, Svetlana Vorslova, Parsla Vevere,Ieva Micule, Zanda Daneberga,Gita Taurina, Sabine Laktina,Madara Auzenbaha,Inga Nartisa

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 160-161

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The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures

Tina Luize Cupane,Mikus Diriks,Gita Taurina,Liene Kornejeva,Linda Gailite,Ieva Malniece,Madara Auzenbaha

CASE REPORTS IN MEDICINE (2023): 3480298

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Clinical and Genetic Characterization of Netherton Syndrome Due to SPINK5 Founder Variant in Latvian Population

Inga Nartisa,Rasa Kirsteina,Katrina Daila Neiburga,Sanita Zigure,Lota Ozola,Ineta Grantina,Ieva Micule,Daiga Murmane,Baiba Slisere,Linda Gailite,Baiba Vilne,Dmitrijs Rots,Gita Taurina,Natalja Kurjane

Pediatric Allergy and Immunologyno. 4 (2023)

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Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene

Marija Roddate,Gita Taurina, Vladimirs Krutovs,Dmitrijs Rots,Viktorija Kenina

AMERICAN JOURNAL OF CASE REPORTS (2023)

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High prevalence of Netherton syndrome in Latvian population caused by founder SPINK5 variant

Inga Nartisa,Lota Ozola,Ineta Grantina,Gita Taurina, Rasa Insberga,Linda Gailite,Natalja Kurjane

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 441-441

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A case of Cat Eye Syndrome (CES) and mosaic additional dic(15;22) marker chromosome

Piret Mertsina,Piret Ilisson, Ave Auser,Kati Kuuse,Gita Taurina,Gunta Kalnberza, Zane Enina, Agnese Berzina,Katrin Ounap

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 218-218

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The first registered type 0 spinal muscular atrophy patient in Latvia: call for change in prenatal diagnostic procedures, case report

Tina Luize Cupane,Mikus Diriks,Gita Taurina,Liene Kornejeva,Linda Gailite,Ieva Malniece,Madara Auzenbaha

crossref（2022）

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