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164 results on '"Stankiewicz, Pawel"'

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1. Epilepsy as a novel phenotype of BPTF-related disorders

7. Centers for Mendelian Genomics: A decade of facilitating gene discovery

12. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

15. Phenotypic expansion of theBPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

16. Contributors

17. Aberrant gliogenesis and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids

20. Parental somatic mosaicism for CNV deletions – A need for more sensitive and precise detection methods in clinical diagnostics settings

23. Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

26. Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development

27. The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia

29. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

31. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

33. Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

43. Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

44. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

48. Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development

50. The complex behavioral phenotype of 15q13.3 microdeletion syndrome

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