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Collection : Archive Ouverte Hal (Hyper Article En Ligne, Ccsd - Centre Pour La Communication Scientifique Directe) Publisher : biomed central Publisher : university of cape town Filter by : Subject
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Academic Journal

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Subjects: Type 2 familial partial lipodystrophy; Dunnigan syndrome; Dunnigan disease

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.sorbonne-universite.fr/hal-03649738 ; Orphanet Journal of Rare Diseases, 2022, ⟨10.1186/s13023-022-02308-7⟩.

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Teenage childbearing and school dropout in a sample of 18,791 single mothers in Cameroon ; Grossesses précoces et abandon scolaire dans un échantillon de 18,791 mères célibataires au Cameroun

Subjects: Teenage pregnancy; Single mothers; School dropout

  • Source: ISSN: 1742-4755 ; Reproductive Health ; https://cnam.hal.science/hal-03622607 ; Reproductive Health, 2022, 19 (1), pp.10. ⟨10.1186/s12978-021-01323-4⟩.

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Academic Journal

Multigenerational endometriosis : consequence of fetal exposure to diethylstilbestrol ?

Subjects: Familial endometriosis; Diethylstilbestrol (DES); Multigenerational transmission

  • Source: ISSN: 1476-069X ; Environmental Health ; https://hal.archives-ouvertes.fr/hal-03338915 ; Environmental Health, BioMed Central, 2021, 20 (1),

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Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

Subjects: MESH: Familial; multidisciplinary discussion; Interstitial pulmonary fibrosis

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://www.hal.inserm.fr/inserm-03798757 ; Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.280. ⟨10.1186/s13023-019-1256-5⟩.

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Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

Subjects: Intra-familial phenotypic heterogeneity; Africa; LBSL

  • Source: ISSN: 1471-2377 ; BMC Neurology ; https://hal.sorbonne-universite.fr/hal-01907388 ; BMC Neurology, BioMed Central, 2018, 18, pp.175.

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Academic Journal

A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever

Subjects: Familial Mediterranean fever; Colchicine; Resistance to treatment

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://www.hal.inserm.fr/inserm-04051765 ; Orphanet Journal of Rare Diseases, 2017, 12 (1), pp.54. ⟨10.1186/s13023-017-0609-1⟩.

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Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

Subjects: Clinical trial; Phase II; Genetic mutation

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal-amu.archives-ouvertes.fr/hal-01238110 ; Orphanet Journal of Rare Diseases, BioMed Central, 2015, 10

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Academic Journal

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

Subjects: Breast cancer; BRCA2; BRCA1

  • Source: ISSN: 1897-4287 ; Hereditary Cancer in Clinical Practice ; https://www.hal.inserm.fr/inserm-00731438 ; Hereditary Cancer in Clinical Practice, BioMed Central, 2012,

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Perforin-1 does not appear to be associated with familial hematological malignancies.

Subjects: PRF1; germline mutation; hematological familial malignancies

  • Source: ISSN: 1897-4287 ; Hereditary Cancer in Clinical Practice ; https://www.hal.inserm.fr/inserm-00634278 ; Hereditary Cancer in Clinical Practice, BioMed Central, 2011, 9

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Academic Journal

Ovine serum biomarkers of early and late phase scrapie

Subjects: CREUTZFELDT-JAKOB-DISEASE; TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES; FAMILIAL AMYLOIDOTIC POLYNEUROPATHY

  • Source: ISSN: 1746-6148 ; BMC Veterinary Research ; https://hal.inrae.fr/hal-02661442 ; BMC Veterinary Research, BioMed Central, 2010, 6, ⟨10.1186/1746-6148-6-49⟩.

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  • 1-10 of  11 results for ""familial""