354 results on '"Sinke, Richard J."'
Search Results
2. Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant
3. Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?
4. Feasibility of predicting allele specific expression from DNA sequencing using machine learning
5. Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa
6. Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy
7. Using the shared genetics of dystonia and ataxia to unravel their pathogenesis
8. CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
9. Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
10. A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)
11. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
12. Naturally Occurring Variants in LRP1 (Low-Density Lipoprotein Receptor–Related Protein 1) Affect HDL (High-Density Lipoprotein) Metabolism Through ABCA1 (ATP-Binding Cassette A1) and SR-B1 (Scavenger Receptor Class B Type 1) in Humans
13. Abstract 18198: A Stepwise Approach Including Whole Exome Sequencing Targeting a Gene Panel for Paediatric Dilated Cardiomyopathy, Potentially Yields a Diagnosis in 50% of Patients
14. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia
15. RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling
16. High Sibling Correlation on Methylphenidate Response but No Association with DAT1-10R Homozygosity in Dutch Sibpairs with ADHD
17. Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner
18. Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
19. Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis Bullosa
20. CoNVaDING: Single Exon Variation Detection in Targeted NGS Data
21. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm
22. The Human E48 Antigen, Highly Homologous to the Murine Ly-6 Antigen ThB, Is a GPI-Anchored Molecule Apparently Involved in Keratinocyte Cell-Cell Adhesion
23. Cloning, Chromosomal Localization, and Functional Expression of the α 1 Subunit of the L-Type Voltage-Dependent Calcium Channel from Normal Human Heart
24. Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients
25. Polymorphisms in catechol- O-methyltransferase and methylenetetrahydrofolate reductase in relation to the risk of schizophrenia
26. DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands
27. Multiple Colorectal Neoplasms in X-Linked Agammaglobulinemia
28. Prodynorphin mutations cause the neurodegenrative disorder spinocerebellar ataxia type 23
29. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy
30. Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
31. The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts
32. Additional file 1 of CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
33. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population
34. Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes
35. Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics
36. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19
37. Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study
38. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC
39. CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
40. Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64
41. Do mood symptoms subdivide the schizophrenia phenotype? association of the GMP6A gene with a depression subgroup
42. Is MYO9B the missing link between schizophrenia and celiac disease?
43. Exclusion of the phosphatidylinositol-specific phospholipase C β3 (PLC β3) gene as candidate for the multiple endocrine neoplasia type 1 (MEN 1) gene
44. The Association Between H63D Mutations in HFE and Amyotrophic Lateral Sclerosis in a Dutch Population
45. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
46. High sibling correlation on methylphenidate response but no association with DAT1-10R homozygosity in Dutch sibpairs with ADHD
47. Recent Advances in Hereditary Spinocerebellar Ataxias
48. Peripheral Nerve Involvement in Spinocerebellar Ataxias
49. SCA19 and SCA22: evidence for one locus with a worldwide distribution
50. Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations
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