37 results on '"SOWIŃSKA-SEIDLER, ANNA"'
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2. SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
3. Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
4. A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus
5. Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis
6. Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation
7. Noncoding copy-number variations are associated with congenital limb malformation
8. Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
9. Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS
10. Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature
11. Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency
12. Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene
13. Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
14. Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene
15. Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects
16. Additional file 4 of SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
17. Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses
18. Split-hand/foot malformation - molecular cause and implications in genetic counseling
19. Position effects at the FGF8 locus are associated with femoral hypoplasia
20. Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation
21. Position effects at the FGF8 locus are associated with femoral hypoplasia
22. Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
23. Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
24. The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings
25. A novel biallelic splice‐site variant in theLRP4gene causes sclerosteosis 2
26. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
27. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
28. Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia
29. A novel biallelic splice‐site variant in the LRP4 gene causes sclerosteosis 2.
30. Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missenseFRAS1mutation
31. Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis
32. Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach
33. Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene
34. Heterozygous DLX5 nonsense mutation associated with isolated split‐hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families
35. Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) — Further extension of the mutational spectrum
36. Split-hand/foot malformation - molecular cause and implications in genetic counseling
37. Mutational screening of EXT1and EXT2genes in Polish patients with hereditary multiple exostoses
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