Iwona Pinkier - Department of Genetics, Polish Mother’s Memorial Hospital Research Institute

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论文共 17 篇作者统计合作学者相似作者

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Novel BOLA3 and WARS2 Variation Cause Potentially Lethal Autosomal Recessive Hypertrophic Cardiomyopathy - Expanding the Molecular and Phenotypic Spectrum

Lukasz Kepczynski,Katarzyna Polatynska, Anna Mazurek-Kula,Kinga Salacinska,Iwona Pinkier,Malgorzata Rydzanicz,Joanna Kosinska,Grazyna Kostrzewa,Rafal Ploski, Katarzyna Biernacka-Racicot,Piotr Grzelak, Patrycja Gladysz-Piestrzynska,Tadeusz Kaluzewski, Lukasz Przesor,Ewa Czichos,Hanna Romanowicz,Ewa Starostecka,Andrzej Lewinski,Agnieszka Gach

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 427-427

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Genetic Analysis in Patients with Androgen Insensitivity Syndrome - Detection of a Novel AR Gene Variant

Agnieszka Gach,Iwona Pinkier,Kinga Salacinska,Urszula Wysocka,Tadeusz Kaluzewski

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 133-133

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Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing

Tadeusz Kaluzewski,Iwona Pinkier,Urszula Wysocka,Jordan Salamunia,Lukasz Kepczynski,Makgorzata Piotrowicz,Bogdan Kaluzewski,Agnieszka Gach

APPLICATION OF CLINICAL GENETICS (2024): 205-214

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To Test or Not to Test: Routine Thrombophilia Diagnostic Screening of Women with Reproductive Failures

Urszula Wysocka,Kinga Salacinska,Iwona Pinkier,Lukasz Kepczynski,Wojciech Alaszewski,Lech Dudarewicz,Agnieszka Gach

JOURNAL OF CLINICAL MEDICINEno. 24 (2023)

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Comprehensive Molecular Screening Using NGS Custom Gene Panel Identifies Ultra-Rare Types of Osteogenesis Imperfecta and OI-like Disorders

Kinga Salacinska,Lena Rutkowska,Iwona Pinkier,Dominik Salachna,Izabela Michalus,Elzbieta Jakubowska-Pietkiewicz,Lukasz Kepczynski,Agnieszka Gach

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 394-394

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The Phenotype of Floating-Harbor Syndrome: Clinical Characterisation of New Individuals of Polish Origin

Malgorzata Piotrowicz,Lukasz Kepczynski,Iwona Pinkier,Kinga Salacinska,Agnieszka Gach

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

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The First Glycine‐to‐tryptophan Substitution in the COL1A1 Gene Identified in a Patient with Progressively‐deforming Osteogenesis Imperfecta

Kinga Salacinska,Izabela Michalus,Iwona Pinkier,Lena Rutkowska,Danuta Chlebna-Sokol,Elzbieta Jakubowska-Pietkiewicz,Lukasz Kepczynski,Dominik Salachna,Agnieszka Gach

Molecular Genetics & Genomic Medicine（2022）

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Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients

Lena Rutkowska,Iwona Pinkier,Kinga Salacinska,Lukasz Kepczynski,Dominik Salachna,Joanna Lewek,Maciej Banach,Pawel Matusik,Ewa Starostecka,Andrzej Lewinski,Rafal Ploski,Piotr Stawinski,Agnieszka Gach

Genes（2022）

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Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel

Lena Rutkowska,Kinga Salacinska,Dominik Salachna,Pawel Matusik,Iwona Pinkier,Lukasz Kepczynski,Malgorzata Piotrowicz,Ewa Starostecka,Andrzej Lewinski,Agnieszka Gach

Genesno. 6 (2022): 999-999

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