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  • 1-5 ل  5 نتائج ل ""Mental retardation""

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Collection : Universite Grenoble Alpes
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Academic Journal

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

Subjects: paracentric inversion; 2q37 deletion syndrome; duplication

  • Source: ISSN: 1552-4825.

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Academic Journal

Clinical expression of Menkes disease in females with normal karyotype.

Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://inserm.hal.science/inserm-00677813 ; Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.6. ⟨10.1186/1750-1172-7-6⟩.

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Dissertation/ Thesis

Tryptophan metabolic pathway in pathology : an example in phenylketonuria and cardiovascular disease prospect ; Etude de la voie catabolique du tryptophane dans différentes conditions pathologiques : exemple de la phénylcétonurie et perspectives dans les maladies cardiovasculaires

Subjects: Tryptophan; Kynurenine; Phenylketonuria

  • Source: https://theses.hal.science/tel-03198887 ; Médecine humaine et pathologie. Université Grenoble Alpes [2020-.], 2020. Français. ⟨NNT : 2020GRALV040⟩.

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Academic Journal

Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus.

Subjects: MESH: Animals; MESH: Convulsants; MESH: Epilepsy

  • Source: ISSN: 1932-6203.

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Academic Journal

Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13)

Subjects: [SDV]Life Sciences [q-bio]

  • Source: ISSN: 0027-8424.

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  • 1-5 ل  5 نتائج ل ""Mental retardation""