227 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. A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset
13. GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms
14. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
15. Transposable element expression with variation in sex chromosome number supports a toxic Y effect on human longevity
16. Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
17. Molecular and Phenotypic Characterization of the RORB-Related Disorder.
18. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
19. Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing
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. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
24. A Novel Disorder of Sex Development, Characterized by Progressive Regression of Testicular Function and Cystic Leukoencephalopathy
25. Functional variants of POC5 identified in patients with idiopathic scoliosis
26. Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy
27. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
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. GRM7-related disorder: five additional patients from three independent families and review of the literature
31. Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A
32. Le facteur de transcription PBX1 est responsable d’anomalies du développement sexuel associé à une atteinte rénale
33. A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion
34. Loss of function variants in the KCNQ5 gene are associated with genetic generalized epilepsies
35. Loss of function variants in the KCNQ5 gene are associated with genetic generalized epilepsies
36. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
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. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
40. Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy
41. Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
42. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
43. Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing
44. Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration
45. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant ofSLC7A6OS
46. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
47. Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy
48. Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
49. Mandibular‐pelvic‐patellar syndrome is a novel PITX1 ‐related disorder due to alteration of PITX1 transactivation ability
50. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
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