Search

Your search keyword '"Caroline Kannengiesser"' showing total 176 results

Search Constraints

Start Over You searched for: Author "Caroline Kannengiesser" Remove constraint Author: "Caroline Kannengiesser"
176 results on '"Caroline Kannengiesser"'

Search Results

51. Telomere syndrome and the lung

52. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

53. Un score prédictif de la survenue de pneumopathie interstitielle diffuse préclinique au cours de la polyarthrite rhumatoïde

55. Liver involvement in patients with telomere-related genes mutations: prevalence, clinical, radiological, pathological features, outcome and risk factors

56. Pneumopathies interstitielles diffuses associées aux mutations de Poly(A)-specific ribonuclease (PARN) : une étude de cohorte rétrospective multicentrique

57. Impact clinique de la mutation BRAFV600E dans l’histiocytose Langerhansienne pulmonaire de l’adulte

58. The

59. Somatic genetic rescue in Mendelian haematopoietic diseases

60. Clinical outcomes after lung transplantation for fibrosis in telomerase related genes mutation carriers

61. Real-life experience of familial fibrosis in a Belgian university

62. Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison

63. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

64. NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome

65. Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis

66. Leukocyte Telomere Length, DNA Oxidation, and Risk of Lower-Extremity Amputation in Patients With Long-standing Type 1 Diabetes

67. A Novel Heterozygous Deletion Variant in KLOTHO Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway

68. Regulator of telomere length 1 ( RTEL1 ) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes

69. Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry

70. POS0095 DEVELOPPING A SCORE TO PREDICT PRECLINICAL INTERSTITIAL LUNG DISEASE IN PATIENTS WITH RHEUMATOID ARTHRITIS – A CROSS-SECTIONAL STUDY FROM THE ESPOIR COHORT

71. Looking for somatic mutations in fibrosing interstitial lung diseases

72. Prévalence de la pneumopathie interstitielle diffuse associée à la polyathrite rhumatoïde dans la cohorte Espoir et intérêt du génotypage de rs35705950

73. LethalALAS2mutation in males X-linked sideroblastic anaemia

74. Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain

75. Anémies microcytaires rares

76. GermlineSFTPA1mutation in familial idiopathic interstitial pneumonia and lung cancer

77. Methotrexate and rheumatoid arthritis associated interstitial lung disease

78. The MUC5B promoter risk allele for idiopathic pulmonary fibrosis predisposes to asbestosis

79. Pulmonary fibrosis: Genetic analysis of telomere-related genes, telomere length measurement-or both?

80. Multidisciplinary team dedicated to suspected heritable pulmonary fibrosis

81. Lung disease caused by non-null ABCA3 mutations: long-term follow-up

82. Functional assessment of newly identified SFTPA1 and SFTPA2 mutations in patients with idiopathic interstitial pneumonia (IIP) and lung cancer

83. TERT/TERC mutations in a Greek cohort of suspected genetic pulmonary fibrosis patients

84. Genetic landscape of adult Langerhans cell histiocytosis with lung involvement

85. Regulator of telomere length 1 (

86. Safety and efficacy of pirfenidone in patients carrying telomerase complex mutation

87. MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

88. Évolution après transplantation pulmonaire pour fibrose chez les patients porteurs d’une mutation du complexe télomérase

89. Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms

90. Familial pulmonary fibrosis

91. Mutation in human

92. Mutation in human CLPX elevates levels of δ- aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

93. SFTPA mutations in interstitial lung disease (ILD) and lung cancer

94. Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation

95. AB0007 Shared genetic predisposition in rheumatoid arthritis–interstitial lung disease and familial pulmonary fibrosis

96. Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

97. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

98. Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis

99. The genetics of interstitial lung diseases

100. Fibrose pulmonaire dans un contexte de téloméropathie avec mutation TERC

Catalog

Books, media, physical & digital resources