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3. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

4. A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa.

6. Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

7. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

8. A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

9. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

10. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

11. Antisense oligonucleotides for dominantly inherited hearing impairment DFNA9: from cells models to humanized mice.

13. Bifunctional protein PCBD2 operates as a co-factor for hepatocyte nuclear factor 1β and modulates gene transcription.

14. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

15. Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

16. Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

17. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

18. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

19. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

20. Novel GANAB variants associated with polycystic liver disease

21. Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

22. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

23. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

24. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

25. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

26. Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

29. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

30. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

31. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

32. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans

33. Investigating the active site of human trimethyllysine hydroxylase

35. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

37. Functional characterization of TBR1 variants in neurodevelopmental disorder

38. Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

39. Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

40. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

41. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

43. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

44. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

45. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

46. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

47. Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome

48. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

49. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

50. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

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