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348 results on '"Denommé-Pichon AS"'

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1. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

2. Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

3. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

4. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

5. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

6. Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

7. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

8. Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature

9. O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

10. RNA variant assessment using transactivation and transdifferentiation

11. A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

12. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

13. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

15. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

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

17. Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

18. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

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

20. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

21. Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

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

23. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

24. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

25. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

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

27. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

28. Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

29. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

30. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

31. OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

32. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

33. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

34. Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS):new insights from the fetal perspective

35. RNA variant assessment using transactivation and transdifferentiation

36. Developmental epileptic encephalopathy in DLG4-related synaptopathy

37. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

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

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

40. Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene

41. Developmental epileptic encephalopathy in DLG4‐related synaptopathy

42. Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

43. The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

44. Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases

45. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

46. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

47. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

48. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

49. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

50. Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

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