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STANKIEWICZ, PAWEL
One or more keywords matched the following items that are connected to
STANKIEWICZ, PAWEL
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Name
Academic Article
Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
Concept
Exome
Academic Article
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Academic Article
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
Academic Article
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Academic Article
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Academic Article
A de novo 2.2?Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.
Academic Article
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Academic Article
Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.
Academic Article
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.
Search Criteria
Exome