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  • 1-10 of  16 نتائج ل ""Genetics""

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Collection : Universite De Bourgogne (Ub) Publisher : hal ccsd Publisher : pensoft publishers Publisher : wiley Subject : [sdv.mhep]life sciences [q-bio]/human health and pathology Subject : intellectual disability فلترة بواسطة : موضوع
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Academic Journal

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

Subjects: Cost analysis; Exome sequencing; Intellectual disability

  • Source: ISSN: 1472-6963 ; BMC Health Services Research ; https://univ-rennes.hal.science/hal-04164227 ; BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩.

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Academic Journal

Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study

Subjects: genome sequencing; intellectual disability; cost-effectiveness

  • Source: ISSN: 1664-8021 ; Frontiers in Genetics ; https://hal.science/hal-03610031 ; Frontiers in Genetics, 2022, 12, pp.766964.

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Academic Journal

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

Subjects: neurodevelopmental disorder; nuclear envelope instability; transcriptomics

  • Source: ISSN: 0002-9297.

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Academic Journal

Interlaboratory evaluation of Mucorales PCR assays for testing serum specimens ; Interlaboratory evaluation of Mucorales PCR assays for testing serum specimens: A study by the fungal PCR Initiative and the Modimucor study group

Subjects: Mucorales PCR; circulating DNA; interlaboratory assay

  • Source: ISSN: 1369-3786.

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Academic Journal

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Subjects: PPP2R1A; PP2A; intellectual disability

  • Source: ISSN: 1098-3600.

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Academic Journal

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Subjects: Data warehouse; Developmental disorders; Epidemiology

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-03403349 ; Orphanet Journal of Rare Diseases, 2021, 16 (1), ⟨10.1186/s13023-021-01957-4⟩.

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Academic Journal

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

Subjects: Social support; Intellectual disability; Patient care management

  • Source: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.umontpellier.fr/hal-03338019 ; European Journal of Medical

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Academic Journal

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Subjects: Cytogenetics; Medical genetics; Neurodevelopmental disorders

  • Source: ISSN: 1018-4813.

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Academic Journal

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics; [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

  • Source: ISSN: 2041-1723.

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Academic Journal

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Subjects: bohring-opitz syndrome; novo frameshift mutation; intellectual disability

  • Source: ISSN: 1018-4813.

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  • 1-10 of  16 نتائج ل ""Genetics""