43 results on '"Westphal, Dominik S."'
Search Results
2. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
3. De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
4. Telemedical monitoring in patients with inborn cardiac disease – experience of a tertiary care centre
5. Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes
6. Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
7. Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
8. Monogenic variants in dystonia: an exome-wide sequencing study
9. Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
10. Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay
11. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
12. De novo variants in GABRA4are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
13. Clinical interpretation ofKCNH2variants using a robust PS3/BS3 functional patch clamp assay
14. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
15. The Role of RYR2 in Atrial Fibrillation
16. Telemedical monitoring in patients with inborn cardiac disease – experience of a tertiary care centre
17. Genetic and phenotypic spectrum in theNONO‐associated syndromic disorder
18. Fetal Bradycardia Caused by Monogenic Disorders—A Review of the Literature
19. Myocarditis or inherited disease? – The multifaceted presentation of arrhythmogenic cardiomyopathy
20. There is more to it than just congenital heart defects – The phenotypic spectrum of TAB2-related syndrome
21. A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype
22. Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder.
23. A case report of RASA1-associated inherited lymphoedema with recurrent life-threatening lymphangitis
24. Do children with congenital heart defects meet the vaccination recommendations? Immunisation in children with congenital heart defects
25. Additional file 2 of Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
26. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
27. Do children with congenital heart defects meet the vaccination recommendations? Immunisation in children with congenital heart defects.
28. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
29. A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions
30. The missense variant p.(Gly482Arg) in HCN4 is responsible for fetal tachy-bradycardia syndrome
31. Reclassification of genetic variants in children with long QT syndrome
32. case report of RASA1-associated inherited lymphoedema with recurrent life-threatening lymphangitis.
33. MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34
34. Phenotypic variability of GABRA1 ‐related epilepsy in monozygotic twins
35. Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
36. Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing
37. MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34
38. Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly – A case report
39. A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.
40. Variants that get straight to your heart – Cardiogenetic secondary findings in exome sequencing.
41. Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
42. Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
43. A case report of RASA1 -associated inherited lymphoedema with recurrent life-threatening lymphangitis.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.