Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

نتائج البحث

Display Settings
النتائج لكل صفحة: 10
Sort By: Relevance
Filter

فلترة النتائج

Collection : Hospices Civils De Lyon (Hcl)
إعادة تعيين خيارات الفبترة
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.

Subjects: Male; Mutation; Single Nucleotide

  • Source: ISSN: 2399-3642 ; Communications Biology ; https://hal.science/hal-05232339 ; Communications Biology, 2025, 8 (1), pp.1072. ⟨10.1038/s42003-025-08461-6⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Cascade screening in familial hypercholesterolaemia is associated with earlier statin initiation and fewer cardiovascular events than opportunistic screening

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

  • Source: ISSN: 2047-4873.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations

Subjects: Abnormalities; Neonatal Diseases; Congenital Hereditary

  • Source: ISSN: 0022-2593.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

Subjects: Panel; Pathogenic; variant

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-04675356 ; Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.288. ⟨10.1186/s13023-019-1189-z⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Report

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia

Subjects: ORFS; Lead (geology); [SDV]Life Sciences [q-bio]

  • Source: https://hal.science/hal-05059184 ; 2025.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

Subjects: Genetics and molecular epidemiology; Paediatrics; TNGS

  • Source: ISSN: 1873-9946.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

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

  • Source: ISSN: 1018-4813.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.IB]Life Sciences [q-bio]/Bioengineering

  • Source: ISSN: 0022-2593.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

Subjects: RNA-seq; clinical diagnoses; genome sequencing

  • Source: ISSN: 2296-634X ; Frontiers in Cell and Developmental Biology ; https://univ-rennes.hal.science/hal-04067649 ; Frontiers in Cell and Developmental Biology, 2023, 11, pp.1021920.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants

Subjects: apolipoprotéine B; cholestérol; Fonctionnalité

  • Source: ISSN: 1661-6596.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×