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4. A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy

5. Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions

6. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

7. Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target

9. Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)

10. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

11. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

12. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly

13. Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients

15. Episignature analysis of moderate effects and mosaics

16. RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses

18. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

19. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

20. Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis

21. A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children

22. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

23. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

24. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

25. Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches

27. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

28. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

29. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

30. Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

33. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

34. Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

36. Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target

37. Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

38. DLG4-related synaptopathy: a new rare brain disorder

39. Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.

40. Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.

41. A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy

45. A pathogenic variant in RAB32 causes autosomal dominant Parkinsons disease and activates LRRK2 kinase

46. Advancing molecular, phenotypic and mechanistic insights ofFGF14pathogenic expansions (SCA27B)

47. Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

48. A Pathogenic Variant in Rab32 Causes Autosomal Dominant Parkinson's Disease and Activates LRRK2 Kinase

49. Clinical and Neuroradiological Spectrum of Biallelic Variants in NOTCH3

50. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

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