312 results on '"JAMSHEER, ALEKSANDER"'
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2. Chromatinopathies: insight in clinical aspects and underlying epigenetic changes
3. The landscape of the COVID-19 pandemic in Poland emerging from epidemiological and genomic data
4. Molecular landscape of congenital vertebral malformations: recent discoveries and future directions
5. Evaluating the efficacy of a ketogenic diet in managing drug resistant paediatric DEDPC5-related epilepsy
6. A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome
7. HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families
8. Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) – the clinical and molecular summary
9. The pZRS non-coding regulatory mutation resulting in triphalangeal thumb–polysyndactyly syndrome changes the pattern of local interactions
10. Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene
11. SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
12. CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy
13. Genome sequencing in families with congenital limb malformations
14. Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
15. A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus
16. Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
17. Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?
18. NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study
19. Development of a tool for predicting HNF1B mutations in children with congenital anomalies of the kidneys and urinary tract – a retrospective multicenter study
20. Duplication of 10q24 locus: broadening the clinical and radiological spectrum
21. Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis
22. Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
23. Phenotypic description of two adult brothers presenting with mild form of Smith–Lemli–Opitz syndrome
24. Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation
25. Noncoding copy-number variations are associated with congenital limb malformation
26. Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
27. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
28. A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome
29. Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole‐exome sequencing
30. Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature
31. Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
32. Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency
33. 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
34. Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects
35. Additional file 4 of SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
36. Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation
37. Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole‐exome sequencing.
38. Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene
39. An Assessment of Selected Molecular and Biochemical Markers of the Folate Pathway as Potential Risk Factors for Fetal Trisomy 21 during the First Trimester of Pregnancy in the Polish Population
40. Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation
41. Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies
42. Genotype-phenotype correlation in clubfoot (talipes equinovarus)
43. Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia
44. Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses
45. Split-hand/foot malformation - molecular cause and implications in genetic counseling
46. Position effects at the FGF8 locus are associated with femoral hypoplasia
47. Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions
48. Additional file 1 of Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
49. Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations
50. The First Description of Monozygotic Twin Females Discordant for the Craniofrontonasal Syndrome Phenotype and the Report of Four Novel Pathogenic Variants in the EFNB1 Gene
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