558 results on '"van Haelst, Mieke M"'
Search Results
2. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
3. Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
4. Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review
5. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
6. Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
7. CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
8. Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
9. Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals
10. Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review
11. Treatment with liraglutide or naltrexone-bupropion in patients with genetic obesity: a real-world study
12. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
13. DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
14. Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population
15. Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9
16. DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
17. Successful naltrexone-bupropion treatment after several treatment failures in a patient with severe monogenic obesity
18. Genetic diagnosis for rare diseases in the Dutch Caribbean: a qualitative study on the experiences and associated needs of parents
19. The utility of obesity polygenic risk scores from research to clinical practice: A review.
20. Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case–Control Study of 105 Patients
21. Clinical phenotypes of adults with monogenic and syndromic genetic obesity
22. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
23. DLG4-related synaptopathy: a new rare brain disorder
24. Drug Repurposing for Rare Diseases
25. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
26. “Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome
27. Clinical and community genetics services in the Dutch Caribbean
28. GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
29. MC4R variants modulate α-MSH and setmelanotide induced cellular signaling at multiple levels
30. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
31. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
32. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
33. Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
34. Clinical phenotypes of adults with monogenic and syndromic genetic obesity
35. GNB1 and obesity:Evidence for a correlation between haploinsufficiency and syndromic obesity
36. Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes:from clinical manifestations towards personalized treatment options
37. Dementia in Rare Genetic Neurodevelopmental Disorders:A Systematic Literature Review
38. Treatment with liraglutide or naltrexone-bupropion in patients with genetic obesity:a real-world study
39. The utility of obesity polygenic risk scores from research to clinical practice: A review
40. Developmental epileptic encephalopathy in DLG4-related synaptopathy
41. Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome
42. Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74
43. Genetics of Obesity
44. Fetal methotrexate syndrome: A systematic review of case reports
45. The pathogenesis of obesity
46. Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
47. Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review.
48. Developmental epileptic encephalopathy in DLG4‐related synaptopathy
49. Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals
50. Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol
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