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1. Further delineation of the SCAF4-associated neurodevelopmental disorder

2. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

3. Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

5. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

7. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

8. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

9. Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses

10. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

11. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

12. Episignature analysis of moderate effects and mosaics

13. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

14. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

15. Trio Exome Sequencing in VACTERL Association

16. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

17. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

18. De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

19. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

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

22. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

23. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia

24. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

25. Clinico-genetic findings in 509 frontotemporal dementia patients

27. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

28. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

29. Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.

30. Monogenic variants in dystonia: an exome-wide sequencing study

33. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

34. Genetic landscape of pediatric acute liver failure of indeterminate origin

37. Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation.

38. Genetic landscape of pediatric acute liver failure of indeterminate origin.

39. Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses

40. Genetic landscape of pediatric acute liver failure of indeterminate origin

41. Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)

42. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

43. Loss-of-function variants inCUL3cause a syndromic neurodevelopmental disorder

44. GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases

45. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

46. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

48. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

49. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

50. Sema7A and Sema4D Heterodimerization is Essential for Membrane Targeting and Neocortical Wiring

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