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International Journal of Molecular Sciences|February 27, 2026
Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic ApproachAnna Szoszkiewicz, Anna Sowińska-Seidler, Aleksandra Wnuk-Kłosińska, et al.
American Journal of Cardiovascular Drugs : Drugs, Devices, and Other Interventions|August 28, 2025
Cardiovascular Safety of Bruton Tyrosine Kinase Inhibitors: From Ibrutinib to Next-Generation AgentsLuigi Spadafora, Federico Russo, Ewelina Bukowska-Olech, et al.
Frontiers in Endocrinology|July 3, 2020
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)Bartlomiej Budny, Tomasz Zemojtel, Malgorzata Kaluzna, et al.
American Journal of Medical Genetics. Part A|January 9, 2021
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35Joanna Walczak-Sztulpa, Anna Wawrocka, Małgorzata Stańczyk, et al.
Frontiers in Genetics|July 25, 2022
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate DiagnosisJoanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, et al.
American Journal of Human Genetics|August 25, 2021
Position effects at the FGF8 locus are associated with femoral hypoplasiaMagdalena Socha, Anna Sowińska-Seidler, Uirá Souto Melo, et al.
International Journal of Molecular Sciences|January 27, 2021
Transcriptome Changes in Three Brain Regions during Chronic Lithium Administration in the Rat Models of Mania and DepressionDawid Szczepankiewicz, Piotr Celichowski, Paweł A Kołodziejski, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|July 28, 2024
From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriagesKarolina Ewa Matuszewska, Ewelina Bukowska-Olech, Michał Piechota, et al.
Pediatric Nephrology (Berlin, Germany)|January 10, 2024
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tractMarcin Kołbuc, Mateusz F Kołek, Rafał Motyka, et al.
Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
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