351 results on '"Des Portes, V."'
Search Results
2. Le syndrome de Smith-Magenis, une association unique de troubles du comportement et du cycle veille/sommeil
3. Pineal region tumors: Clinical symptoms and syndromes
4. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
5. Fragile X syndrome: economic burden and health-related quality of life of patients and caregivers in France
6. Quel suivi à long terme pour quels patients ? Séquelles des méningites bactériennes chez l’enfant et chez l’adulte : incidence, types, modes d’évaluation
7. Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification
8. Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis
9. Qualité de vie de l'enfant polyhandicapé : questionnaire portant sur l'influence de l'état de santé et de l'alimentation entérale
10. Actualités sur la génétique des retards mentaux liés au chromosome X
11. Prenatal diagnosis of cerebellar cortical dysplasia associated with abnormalities of foliation
12. Implicit procedural learning in fragile X and Down syndrome
13. The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males
14. Les syndromes de déficit en créatine
15. Abnormal Sylvian fissure on prenatal cerebral imaging: significance and correlation with neuropathological and postnatal data
16. Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case
17. Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia
18. Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis
19. Extracerebellar ectopic brain tissue in the posterior fossa
20. Démarche diagnostique devant une déficience mentale de l’enfant en 2002
21. Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22
22. The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
23. OP14.07: Outcomes of fetuses with small cerebellum on second and third trimester ultrasonography
24. 6q22.1 deletion is associated with epilepsy and abnormal movements
25. West syndrome due to compound heterozygous QARS mutations
26. Next-generation sequencing allows a diagnostic yield of 23.7% in monogenic epilepsies
27. Christianson syndrome: An underestimated cause of electrical status epilepticus in sleep?
28. Next-generation sequencing (NGS) is a powerful tool to improve diagnostic yield in intellectual disability
29. New insight in ARX-mutated patients' language specific impairment and underlying FOXP1 dysregulation
30. Basal ganglia involvement in ARX gene mutated patients: The reason for very specific grasping in ARX mutated patients?
31. Developmental trajectories of 31 French Creatine Transporter Deficiency (SLC6A8) patients: New insights into outcome measures selection
32. Anti-tumor necrosis factor alpha therapy, Adalimumab, in Rasmussen's encephalitis
33. Corpus callosum agenesis with clinically normal people caused by DCC mutations. Prenatal implication
34. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?
35. Approche développementale des fonctions exécutives : du bébé à l’adolescence
36. Neurofibromatose de type 2 : différence inter-générationnelle d’expression génétique et clinique
37. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects
38. The challenges of clinical trials in fragile X syndrome
39. Maladie de Wilson, penser aux formes neurologiques chez l’enfant
40. Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
41. PP12.10 – 2930: Expansion of the spectrum of TUBB4A mutations-related phenotype in hypomyelinating leukodystophy with atrophy of basal ganglia and cerebellum
42. PP02.4 – 2917: Cognitive outcome of isolated agenesis of the corpus callosum diagnosed during pregnancy: A clinical follow up of 46 patients
43. [Long-term follow-up of bacterial meningitis - sequels in children and adults: incidence, type, and assessment issues]
44. [Acute hemiparesis revealing a neuroborreliosis in a child]
45. [MRI morphometry, an insight into brain function]
46. SFIPP CO-05 - Hypoplasie unilatérale du cervelet (HUC). Une série prénatale de 26 cas
47. Hamartome rétinien inaugurant une neurofibromatose de type 2 chez un enfant dont le père présente une forme sévère en mosaïque
48. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
49. Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesis
50. P210 – 2028 Motor and cognitive outcome of congenital unilateral cerebellar hemisphere hypoplasia: a prospective study of ten prenatal cases
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