336 results on '"Labalme, Audrey"'
Search Results
2. DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling
3. The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
4. Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia
5. Description of a novel patient with the TRPM3 recurrent p.Val837Met variant
6. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
7. Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency
8. Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
9. Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment
10. Molecular and Phenotypic Characterization of the RORB-Related Disorder
11. GRM7-related disorder: Five additional patients from three independent families and review of the literature
12. GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms
13. A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset
14. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
15. Molecular and Phenotypic Characterization of the RORB-Related Disorder.
16. Transposable element expression with variation in sex chromosome number supports a toxic Y effect on human longevity
17. Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
18. Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing
19. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
20. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
21. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
22. Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes
23. Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy
24. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
25. A Novel Disorder of Sex Development, Characterized by Progressive Regression of Testicular Function and Cystic Leukoencephalopathy
26. Functional variants of POC5 identified in patients with idiopathic scoliosis
27. Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia
28. PRENATAL IMAGING FEATURES RELATED TO RAC3 PATHOGENIC VARIANT AND DIFFERENTIAL DIAGNOSES
29. Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
30. Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA
31. GRM7-related disorder: five additional patients from three independent families and review of the literature
32. Loss of function variants in the KCNQ5 gene are associated with genetic generalized epilepsies
33. Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A
34. Le facteur de transcription PBX1 est responsable d’anomalies du développement sexuel associé à une atteinte rénale
35. A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion
36. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases
37. DNASE1L3 Deficiency, New Phenotypes and Evidence for a Transient Type I Interferon Signaling
38. Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies
39. Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl
40. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency
41. A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2
42. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
43. Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability
44. Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
45. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
46. Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: Application to Taybi-Linder syndrome
47. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant ofSLC7A6OS
48. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
49. Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy
50. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
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