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
  • 1-10 ل  11 نتائج ل ""Marfan syndrome""

فلترة النتائج

Collection : Universite Paris 13
إعادة تعيين خيارات الفبترة
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age

Subjects: Marfan syndrome; aortic dissection; ectasia

  • Source: ISSN: 2077-0383 ; Journal of Clinical Medicine ; https://hal.science/hal-04090194 ; Journal of Clinical Medicine, 2023, 12 (8), pp.10.3390. ⟨10.3390/jcm12082902⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

Subjects: FBN1 gene; Genetic heterogeneity; Homozygosity

  • Source: ISSN: 0022-2593.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome

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

  • Source: ISSN: 0735-1097.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

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

  • Source: ISSN: 1098-3600.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Optimising Aortic Endovascular Repair in Patients with Marfan Syndrome

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

  • Source: ISSN: 1078-5884 ; European Journal of Vascular and Endovascular Surgery ; https://hal.science/hal-03490882 ; European Journal of Vascular and Endovascular Surgery, 2020, 59, pp.577 - 585.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Subjects: Marfan syndrome; Loeys-Dietz Syndrome; TGFBR1

  • Source: ISSN: 1059-7794.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

WES/WGS Reporting of Mutations from Cardiovascular 'Actionable' Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

Subjects: ExAC; thoracic aortic-aneurysms; mutations

  • Source: ISSN: 1059-7794 ; EISSN: 1098-1004 ; Human Mutation.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Subjects: mutation analysis; fibrillin-1; Marfan syndrome

  • Source: ISSN: 1018-4813.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse

Subjects: mitral valve prolapse; genetic association; MMP2

  • Source: EISSN: 2308-3425 ; Journal of Cardiovascular Development and Disease ; https://hal.science/hal-01830977 ; Journal of Cardiovascular Development and Disease, 2015, 2 (3), pp.176--189.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Subjects: fibrillin; FBN2; Beals-Hecht syndrome

  • Source: ISSN: 1059-7794.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
  • 1-10 ل  11 نتائج ل ""Marfan syndrome""