34 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. Copy Number Variations in Neuropsychiatric Disorders
11. Identification of an NF1 Microdeletion with Optical Genome Mapping
12. Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma
13. Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene
14. A novel rapamycin cream formulation improves facial angiofibromas associated with tuberous sclerosis complex: a double-blinded, randomised, placebo-controlled trial
15. 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
16. Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor
17. Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature
18. Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study
19. The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome—Case Series
20. Neurofibromatosis-1 microdeletiós szindróma.
21. 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
22. 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
23. Ajak- és szájpadhasadékkal társult genetikai szindrómás gyermekek komplex ellátása
24. 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.
25. A congenitalis alopecia genetikai megközelítése esetismertetés kapcsán.
26. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
27. Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing
28. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
29. Expanded phenotype of AARS1-related white matter disease
30. Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods.
31. Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis.
32. 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.
33. Complex management of children affected with cleft lip and palate associated with genetic syndromes
34. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
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