PAWEL STANKIEWICZ to Lung Diseases
This is a "connection" page, showing publications PAWEL STANKIEWICZ has written about Lung Diseases.
Connection Strength
2.760
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Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disorders. Hum Genomics. 2026 04 30; 20(1).
Score: 0.722
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Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather. Clin Genet. 2026 01; 109(1):161-166.
Score: 0.681
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The Glu86 Residue in TBX4 Proves Critical for Human Lung Development. Am J Med Genet A. 2025 03; 197(3):e63936.
Score: 0.653
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Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders. Am J Respir Crit Care Med. 2019 11 01; 200(9):1093-1101.
Score: 0.460
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Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant. Am J Med Genet A. 2022 05; 188(5):1420-1425.
Score: 0.134
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 02 07; 104(2):213-228.
Score: 0.109