272 results on '"Wessels, Marja W."'
Search Results
2. Phenotypic variability of filamin C–related cardiomyopathy: Insights from a novel Dutch founder variant
3. Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant
4. Identification of novel microcephaly-linked protein ABBA that mediates cortical progenitor cell division and corticogenesis through NEDD9-RhoA
5. Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency
6. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
7. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
8. Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy
9. Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives
10. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy
11. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
12. Multicenter Clinical and Functional Evidence Reclassifies a Recurrent Non-canonical Filamin C Splice-altering Variant
13. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
14. Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.
15. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability
16. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
17. Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability
18. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
19. Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
20. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
21. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
22. Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease
23. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
24. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
25. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
26. A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
27. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
28. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
29. A de novo GLI3 mutation in a patient with acrocallosal syndrome
30. Phenotypic Variability of Atypical 22q11.2 Deletions Not Including TBX1
31. Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
32. MLL2 mutation spectrum in 45 patients with Kabuki syndrome
33. Blood biomarkers in patients with bicuspid aortic valve disease
34. ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype
35. Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
36. Variants in nuclear factor I genes influence growth and development
37. Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
38. Mucopolysaccharidosis Type IIID: 12 New Patients and 15 Novel Mutations
39. Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations
40. Candidate Gene Analysis in Three Families With Acilia Syndrome
41. Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy
42. Mortality Risk Associated With Truncating Founder Mutations in Titin
43. Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy
44. Mortality Risk Associated With Truncating Founder Mutations in Titin
45. Chondrodysplasia Punctata
46. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
47. Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy
48. Mortality Risk Associated With Truncating Founder Mutations in Titin
49. Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy
50. Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome
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