Paweł Stankiewicz
0000-0002-6456-7490
4 papers found
Refreshing results…
High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV
Phenotypic expansion of the BPTF ‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins
Novel parent-of-origin-specific differentially methylated loci on chromosome 16
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