304 results on '"van der Smagt, Jasper J."'
Search Results
2. CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
3. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
4. DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
5. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
6. Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey
7. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants
8. Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
9. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
10. Pulmonary Fibrosis and a TERT Founder Mutation With a Latency Period of 300 Years
11. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants.
12. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants
13. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
14. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
15. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy
16. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
17. Reclassification of a likely pathogenic Dutch founder variant in KCNH2:implications of reduced penetrance
18. Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant
19. Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant
20. DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
21. Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant
22. Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance
23. Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
24. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
25. Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia
26. Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey
27. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
28. Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia
29. Abstract 20814: High Rate of Atrial Arrhythmias in Individuals With Truncating Titin Mutations Including the First Dilated Cardiomyopathy Related Titin Founder Mutation
30. Abstract 19832: De Novo Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Are Rare and Associated With Large Deletions
31. Six uneventful pregnancy outcomes in an extended vascular Ehlers–Danlos syndrome family
32. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene
33. Supplement to: Monocarboxylate transporter type 1 deficiency and ketone utilization
34. Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (DSP) truncating variant
35. Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations
36. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
37. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia
38. Monocarboxylate Transporter 1 Deficiency and Ketone Utilization
39. Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study
40. Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients
41. PULMONARY FIBROSIS AND A TERT FOUNDER MUTATION WITH A LATENCY PERIOD OF 300 YEARS
42. Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study
43. Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH
44. Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation
45. Mutation update for the PORCN gene
46. Systematic review of pregnancy in women with inherited cardiomyopathies
47. Cardiogenetic screening of first-degree relatives after sudden cardiac death in the young: a population-based approach
48. Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients
49. Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study
50. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
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