279 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. Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency
5. Blood biomarkers in patients with bicuspid aortic valve disease
6. Identification of novel microcephaly-linked protein ABBA that mediates cortical progenitor cell division and corticogenesis through NEDD9-RhoA
7. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
8. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
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. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
13. Multicenter Clinical and Functional Evidence Reclassifies a Recurrent Non-canonical Filamin C Splice-altering Variant
14. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability
15. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
16. Progression Rate and Early Surgical Experience in the New Aggressive Aneurysms-Osteoarthritis Syndrome
17. Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
18. Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.
19. Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability
20. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
21. Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease
22. The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations
23. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
24. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
25. Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease
26. Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy
27. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
28. A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
29. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
30. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
31. A de novo GLI3 mutation in a patient with acrocallosal syndrome
32. Phenotypic Variability of Atypical 22q11.2 Deletions Not Including TBX1
33. Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
34. MLL2 mutation spectrum in 45 patients with Kabuki syndrome
35. ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype
36. Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
37. Mucopolysaccharidosis Type IIID: 12 New Patients and 15 Novel Mutations
38. Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations
39. Candidate Gene Analysis in Three Families With Acilia Syndrome
40. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
41. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
42. Chondrodysplasia Punctata
43. Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
44. Variants in nuclear factor I genes influence growth and development
45. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
46. Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy
47. Mortality Risk Associated With Truncating Founder Mutations in Titin
48. Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy
49. Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy
50. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
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