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  • 1-10 ل  14 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""

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Collection : Universite Des Antilles (Uag)
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Academic Journal

Identification of von Willebrand factor D4 domain mutations in patients of Afro‐Caribbean descent: In vitro characterization

Subjects: binding assays; intracellular retention; recombinant proteins

  • Source: ISSN: 2475-0379.

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Academic Journal

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

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

  • Source: ISSN: 1098-3600.

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Academic Journal

Longitudinal Follow-Up of Blood Telomere Length in HIV-Exposed Uninfected Children Having Received One Year of Lopinavir/Ritonavir or Lamivudine as Prophylaxis

Subjects: Africa; HIV; Children

  • Source: ISSN: 2227-9067 ; Children ; https://hal.umontpellier.fr/hal-03647658 ; Children, 2021, 8 (9), pp.796. ⟨10.3390/children8090796⟩.

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Academic Journal

New insights into red cell rheology and adhesion in patients with sickle cell anaemia during vaso-occlusive crises

Subjects: sickle cell anaemia; vaso-occlusive crisis; blood rheology

  • Source: ISSN: 0007-1048.

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Academic Journal

Blood Rheology: Key Parameters, Impact on Blood Flow, Role in Sickle Cell Disease and Effects of Exercise

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

  • Source: ISSN: 1664-042X ; Frontiers in Physiology ; https://hal.univ-antilles.fr/hal-02388071 ; Frontiers in Physiology, 2019, 10, ⟨10.3389/fphys.2019.01329⟩.

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Academic Journal

Multifocal electroretinogram findings in sickle cell maculopathy

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

  • Source: ISSN: 0950-222X.

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Academic Journal

Newborn Screening for Sickle Cell Disease in the Caribbean: An Update of the Present Situation and of the Disease Prevalence

Subjects: sickle cell disease; newborn screening; Caribbean

  • Source: International Journal of Neonatal Screening ; https://hal.univ-antilles.fr/hal-02342564 ; International Journal of Neonatal Screening, 2019, 5 (1), pp.5. ⟨10.3390/ijns5010005⟩

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Academic Journal

Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation

Subjects: [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

  • Source: ISSN: 2045-2322.

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Academic Journal

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

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

  • Source: ISSN: 0197-3851.

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Academic Journal

Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience

Subjects: Diamond-Blackfan anemia; Ribosomal protein genes; Ribosome biogenesis

  • Source: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.science/hal-02327861 ; European Journal of Medical Genetics, 2018,

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  • 1-10 ل  14 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""