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  • 1-2 of  2 نتائج ل ""Thierry Frebourg""

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Publisher : bmj Subject : demography Subject : epidemiology Subject : infant فلترة بواسطة : مؤلف
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Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

Subjects: Adult; Male; Pediatrics

  • Source: Journal of Medical GeneticsJournal of Medical Genetics, BMJ Publishing Group, 2015, 52 (11), pp.770-778. ⟨10.1136/jmedgenet-2015-103299⟩

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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.: MEF2C haploinsufficiency

Subjects: MESH: Cerebrum; Haploidy; Epilepsy

  • Source: Journal of Medical GeneticsJournal of Medical Genetics, BMJ Publishing Group, 2010, 47 (1), pp.22-9. ⟨10.1136/jmg.2009.069732⟩Journal of Medical

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  • 1-2 of  2 نتائج ل ""Thierry Frebourg""