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6. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

9. Liste des collaborateurs

10. Mapping corpus callosum surface reduction in fetal alcohol spectrum disorders with sulci and connectivity-based parcellation

11. PACS2pathogenic variant associated with malformation of cortical development and epilepsy

13. Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing

14. Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

16. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

17. Autosomal recessive primary microcephaly due to ASPM mutations: An update

18. Liste des collaborateurs

22. Neurological outcome in WDR62 primary microcephaly.

25. Neurological outcome in WDR62 primary microcephaly

31. Auteurs et collaborateurs

32. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

34. SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation

35. Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

36. SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation

37. High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

38. Autosomal recessive primary microcephaly due to ASPM mutations: An update

39. Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

40. Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.

41. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

42. Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type

43. CDK5RAP2primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

44. QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

45. Author response: QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

46. Liste des auteurs

47. Activating Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia

50. Familial CHARGE syndrome because of CHD7 mutation: Clinical intra- and interfamilial variability

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