299 results on '"Hadzsiev, Kinga"'
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2. Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report
3. Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome
4. Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
5. NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy
6. Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder
7. Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis
8. TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness
9. Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly
10. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
11. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings
12. Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type
13. Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy
14. Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations
15. A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F
16. Copy Number Variations in Neuropsychiatric Disorders
17. Identification of an NF1 Microdeletion with Optical Genome Mapping
18. Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma
19. Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene
20. A novel rapamycin cream formulation improves facial angiofibromas associated with tuberous sclerosis complex: a double-blinded, randomised, placebo-controlled trial
21. Revealing the Genetic Impact of the Ottoman Occupation on Ethnic Groups of East-Central Europe and on the Roma Population of the Area
22. Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome
23. Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor
24. Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
25. Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature
26. Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study
27. The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome—Case Series
28. Increased prevalence of functional minor allele variants of drug metabolizing CYP2B6 and CYP2D6 genes in Roma population samples
29. Neurofibromatosis-1 microdeletiós szindróma.
30. Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate
31. Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases
32. Genetic Polymorphisms in miR-137 and Its Target Genes, TCF4 and CACNA1C, Contribute to the Risk of Bipolar Disorder: A Preliminary Case-Control Study and Bioinformatics Analysis
33. Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene
34. Role of carnitine and its derivatives in the development and management of type 2 diabetes
35. Ajak- és szájpadhasadékkal társult genetikai szindrómás gyermekek komplex ellátása
36. Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate.
37. A congenitalis alopecia genetikai megközelítése esetismertetés kapcsán.
38. Admixture of beneficial and unfavourable variants of GLCCI1 and FCER2 in Roma samples can implicate different clinical response to corticosteroids
39. Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report
40. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
41. Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing
42. Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions
43. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
44. Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation
45. Mitochondrial DNA 11777C>A Mutation Associated Leigh Syndrome: Case Report with a Review of the Previously Described Pedigrees
46. The influence of genetic syndromes on the algorithm of cleft lip and palate repair – A retrospective study
47. Excess of Malignancies in Grandparents of Children With Malformations?: Short Communication
48. Erratum to: Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases
49. Erratum to: Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases
50. Génvizsgálat Treacher Collins-szindrómában
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