882 results on '"Devriendt, Koenraad"'
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2. Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
3. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
4. Fetal-onset Alexander disease with radiological-neuropathological correlation
5. Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
6. Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism
7. Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
8. Molecular genetic characterization of Congolese patients with oculocutaneous albinism
9. Epidemiology, Outcomes, and Complement Gene Variants in Secondary Thrombotic Microangiopathies
10. Toward 3D facial analysis for recognizing Mendelian causes of autism spectrum disorder.
11. Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group
12. Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets
13. Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies
14. Abstract 11817: Induced Pluripotent Stem Cell-Derived Cardiac Disease Modeling for Studying Mitogenic Cardiomyopathy in Alström Syndrome
15. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
16. Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly
17. Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
18. Evaluating offspring Genomic and Epigenomic alterations after prenatal exposure to Cancer treatment In Pregnancy (GE-CIP): a multicentric observational study
19. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
20. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
21. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
22. First trimester cystic hygroma colli: Retrospective analysis in a tertiary center
23. Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study
24. ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder
25. PEDIA: prioritization of exome data by image analysis
26. Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
27. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
28. Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo
29. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
30. Abstract P1086: Induced Pluripotent Stem Cell-based Cardiac Tissue Modeling Of Mitogenic Cardiomyopathy In Alström Syndrome
31. Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa
32. SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP
33. Microdeletion of the entire IRF6 gene in a Subsaharian African’s family with Van der Woude syndrome
34. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
35. Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature
36. Congenital diaphragmatic hernia as a part of Nance–Horan syndrome?
37. EVALUATE THE USE OF HYDREA IN TREATING CHILDREN WITH SICKLE CELL ANEMIA IN CENTRAL AFRICA'S RURAL AREA
38. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
39. Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa
40. A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium
41. A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium
42. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
43. Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
44. Protective BCL11A and HBS1L‐MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia
45. Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series
46. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
47. Congenital lateral abdominal wall defect in two Congolese children
48. A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium
49. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
50. Mirror-image gastroschisis in monochorionic female twins
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