Search

Your search keyword '"Nizon, Mathilde"' showing total 396 results

Search Constraints

Start Over You searched for: Author "Nizon, Mathilde" Remove constraint Author: "Nizon, Mathilde"
396 results on '"Nizon, Mathilde"'

Search Results

1. Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

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

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

4. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

5. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

6. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

7. Penetrance, variable expressivity and monogenic neurodevelopmental disorders

8. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

9. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

10. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

11. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

12. Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

13. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

14. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

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

16. Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

17. SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

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

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

21. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

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

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

24. Clinical delineation of SETBP1 haploinsufficiency disorder

25. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

26. USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

27. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

28. Growth charts in DYRK1A syndrome

29. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

30. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study

31. USP27Xvariants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

34. Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

35. Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

36. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

37. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

38. Heterozygous loss-of function variants in DOCK4 cause neurodevelopmental delay and microcephaly

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

40. Searching for secondary findings: considering actionability and preserving the right not to know

41. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

42. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

43. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

44. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

45. Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

47. Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.

48. Growth charts in DYRK1A syndrome.

50. Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy

Catalog

Books, media, physical & digital resources