223 results on '"van Hagen, Johanna M."'
Search Results
2. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
3. Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review
4. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
5. DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
6. Successful naltrexone-bupropion treatment after several treatment failures in a patient with severe monogenic obesity
7. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
8. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
9. Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1
10. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures
11. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
12. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
13. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
14. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
15. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile
16. SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
17. Tongue Lip Adhesion in the Treatment of Robin Sequence: Respiratory, Feeding, and Surgical Outcomes
18. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
19. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
20. SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
21. MissenseMED12variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
22. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
23. Erratum:Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Journal of Human Genetics (2018) 103(3) (431–439), (S0002929718302374), (10.1016/j.ajhg.2018.07.010))
24. Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation
25. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
26. A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
27. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome
28. Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature
29. Etiology and pathogenesis of robin sequence in a large Dutch cohort
30. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
31. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
32. Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study
33. SYNGAP1 encephalopathy
34. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018)
35. Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling
36. Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling
37. R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia
38. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
39. A Homozygous MSH6 Mutation in a Child with Café-au-Lait Spots, Oligodendroglioma and Rectal Cancer
40. Meier–Gorlin Syndrome: Growth and Secondary Sexual Development of a Microcephalic Primordial Dwarfism Disorder
41. Two CaV3.3 (CACNA1I) Gain-of-Function Mutations Linked to Epilepsy and Intellectual Disability Affect Gating Properties and the Window Current
42. A triplication of the Williams–Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms
43. Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy
44. Classic pseudoxanthoma elasticum in a patient with sickle cell disease
45. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype:Two unrelated cases and screening of large cohorts
46. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
47. Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study
48. Erratum: Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Journal of Human Genetics (2018) 103(3) (431–439)(S0002929718302374)(10.1016/j.ajhg.2018.07.010))
49. De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability
50. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
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