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  • 1-8 of  8 نتائج ل ""Genetics""

فلترة النتائج

Collection : Universite De Bourgogne (Ub) Publisher : hal ccsd Publisher : pensoft publishers Publisher : wiley 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

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

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

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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Academic Journal

Expanding the Phenotype Associated with NAA10 Related N-terminal Acetylation Deficiency

Subjects: Contract grant sponsors: Dijon University Hospital; Regional Council of Burgundy; KEY WORDS: NAA10

  • Source: ISSN: 1059-7794.

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Dissertation/ Thesis

Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability ; Bases moléculaires et physiopathologiques de syndromes avec anomalies du développement et déficience intellectuelle

Subjects: Intellectual disability; Multiple congenital anomalies; Microdeletionnal syndromes

  • Source: https://theses.hal.science/tel-01381696 ; Biochimie, Biologie Moléculaire. Université de Bourgogne, 2013. Français. ⟨NNT : 2013DIJOS092⟩.

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  • 1-8 of  8 نتائج ل ""Genetics""