628 results on '"Stankiewicz, Pawel"'
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2. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
3. Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?
4. Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe
5. Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia
6. Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation
7. P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis
8. An estimation of the prevalence of genomic disorders using chromosomal microarray data
9. Histologic Features and Decreased Lung FOXF1 Gene Expression in Severe Bronchopulmonary Dysplasia without a Genetic Diagnosis of Alveolar Capillary Dysplasia
10. Position Effects
11. Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p Rearrangements
12. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
13. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
14. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
15. Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.
16. Faculty Opinions recommendation of Evolution of immune genes is associated with the Black Death.
17. Faculty Opinions recommendation of Optical genome mapping enables constitutional chromosomal aberration detection.
18. Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
19. Faculty Opinions recommendation of Somatic mutation rates scale with lifespan across mammals.
20. Centers for Mendelian Genomics: A decade of facilitating gene discovery
21. Functional performance of aCGH design for clinical cytogenetics
22. Faculty Opinions recommendation of Enhancer-silencer transitions in the human genome.
23. Faculty Opinions recommendation of Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions.
24. Detection of Low-Level Parental Somatic Mosaicism for Clinically Relevant Snvs and Indels Identified in a Large Exome Sequencing Dataset
25. Evidence against ZNF469 being causative for keratoconus in Polish patients
26. Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
27. Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
28. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
29. Co-segregation of Freibergʼs infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B
30. Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function
31. Faculty Opinions recommendation of Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
32. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
33. Head Bobber: An Insertional Mutation Causes Inner Ear Defects, Hyperactive Circling, and Deafness
34. Recurrent distal 7q11.23 deletion including H1P1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems
35. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
36. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder
37. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
38. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
39. Faculty Opinions recommendation of Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment.
40. Phenotypic expansion of theBPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
41. SOX12 and NRSN2 Are Candidate Genes for 20p13 Subtelomeric Deletions Associated with Developmental Delay
42. Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis
43. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure
44. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis
45. Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 (DAX1)
46. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage
47. Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and delineation of dosage-sensitive critical interval that can convey an autism phenotype
48. Small marker chromosomes in two patients with segmental aneusomy for proximal 17p
49. Aberrant gliogenesis and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids
50. Faculty Opinions recommendation of The evolutionary history of Neanderthal and Denisovan Y chromosomes.
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