Search

Your search keyword '"Haack, Tobias B"' showing total 1,199 results

Search Constraints

Start Over You searched for: Author "Haack, Tobias B" Remove constraint Author: "Haack, Tobias B"
1,199 results on '"Haack, Tobias B"'

Search Results

1. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

2. Further delineation of the SCAF4-associated neurodevelopmental disorder

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

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

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

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

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

12. Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

13. DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

14. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

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

16. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly

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

19. Episignature analysis of moderate effects and mosaics

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

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

23. RORA-neurodevelopmental disorder: A unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures

24. Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders

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

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

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

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

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

30. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

31. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

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

33. Disruption of MeCP2–TCF20 complex underlies distinct neurodevelopmental disorders

34. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

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

36. Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

38. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

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

41. Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.

42. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

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

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

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

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

48. Expanded phenotype of AARS1-related white matter disease

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

Catalog

Books, media, physical & digital resources