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Subject : [sdv.gen.gh]life sciences [q-bio]/genetics/human genetics
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Diagnostic approach to the congenital muscular dystrophies

Subjects: Génétique clinique; Muscular Dystrophies; 0302 clinical medicine

  • Source: Neuromuscular DisordersNeuromuscular Disorders, 2014, 24 (4), pp.289-311. ⟨10.1016/j.nmd.2013.12.011⟩Neuromuscular disorders, 24 (4Neuromuscular disorders : NMD

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Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness

Subjects: Male; Medicine(all); Tetrahydrobiopterin

  • Source: Orphanet Journal of Rare DiseasesOrphanet Journal of Rare Diseases, BioMed Central, 2015, 10 (1), pp.158. ⟨10.1186/s13023-015-0375-x⟩Orphanet Journal of Rare Diseases, 2015, 10 (1),

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Delineating FOXG1 syndrome ; Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

  • Source: EISSN: 2376-7839 ; Neurology Genetics ; https://hal.science/hal-01920261 ; Neurology Genetics, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩

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Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

Subjects: t cells; sKIV2L; ttC37

  • Source: ISSN: 1664-3224.

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Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia

Subjects: Nephrocalcinosis; Vitamin D; Hypercalcemia

  • Source: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.science/hal-02272241 ; European Journal of Medical Genetics, 2018, 62 (11), pp.103577. ⟨10.1016/j.ejmg.2018.11.011⟩.

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Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

Subjects: TTC37; SKIV2L; very early onset IBD

  • Source: ISSN: 2186-3644.

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Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

Subjects: ancient DNA; immunity; host defense

  • Source: ISSN: 2666-979X ; Cell Genomics ; https://u-paris.hal.science/hal-04096029 ; Cell Genomics, 2023, 3 (2), pp.100248. ⟨10.1016/j.xgen.2022.100248⟩.

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Genetic testing in prolactinomas: a cohort study

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

  • Source: ISSN: 0804-4643.

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NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

Subjects: Developmental and Epileptic Encephalopathies; Electroencephalogram; NAPB

  • Source: ISSN: 0013-9580.

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LIS1-Related Isolated Lissencephaly ; LIS1-Related Isolated Lissencephaly: Spectrum of Mutations and Relationships With Malformation Severity

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

  • Source: ISSN: 0003-9942 ; Archives of Neurology -Chigago- ; https://hal.science/hal-01104698 ; Archives of Neurology -Chigago-, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩.

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  • 1-10 of  350 results for ""Pédiatrie""