273 results on '"Śmigiel, Robert"'
Search Results
2. From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning
3. Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.
4. The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)—A Report of Three Cases, Including Twins.
5. SMC1A epilepsy syndrome: clinical data from a large international cohort.
6. Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father
7. Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome
8. A pro-inflammatory phenotype is associated with behavioural traits in children with Prader–Willi syndrome
9. Health-related quality of life and family functioning of primary caregivers of children with down syndrome
10. A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia
11. AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
12. Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
13. A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.
14. Epigenetic Findings in Twins with Esophageal Atresia
15. Kanałopatie potasowe. Ujęcie interdyscyplinarne
16. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
17. Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
18. Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies
19. AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
20. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
21. Quality of Life in Children with Prader–Willi Syndrome and the Impact of the Disease on the Functioning of Families
22. COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency
23. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
24. Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1
25. Reliability and Validity of the Polish Version of the Esophageal-Atresia-Quality-of-Life Questionnaires to Assess Condition-Specific Quality of Life in Children and Adolescents Born with Esophageal Atresia
26. Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation
27. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family
28. Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.
29. FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
30. Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review
31. Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency
32. Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
33. Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype
34. Treacher Collins Syndrome: Genetics, Clinical Features and Management
35. Diagnosis of Fetal Alcohol Spectrum Disorders (FASDs): Guidelines of Interdisciplinary Group of Polish Professionals
36. Biallelic variants in PIGNcause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
37. Transition - proces przejścia pacjenta z chorobą rzadką z systemu opieki pediatrycznej do internistycznej
38. Lethal and life-limiting skeletal dysplasias: Selected prenatal issues
39. Clinical presentation of Rett syndrome in relation to quality of life and family functioning
40. Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome
41. Kabuki Syndrome—Clinical Review with Molecular Aspects
42. The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the UBE2A and CXorf56 Genes
43. Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants inWDR35
44. CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts
45. Complex glycerol kinase deficiency – long-term follow-up of two patients
46. Single nucleotide polymorphisms in theRET gene and their correlations with Hirschsprung disease phenotype
47. Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients
48. Skin conductance measurement for the assessment of analgosedation adequacy in infants treated with mechanical ventilation: A multicenter pilot study
49. Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
50. Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway
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