817 results on '"Coucke, Paul"'
Search Results
52. An Exploratory Case-Control Study on the Impact of IL-1 Gene Polymorphisms on Early Implant Failure
53. Altered cytoskeletal organization characterized lethal but not surviving Brtl+/− mice: insight on phenotypic variability in osteogenesis imperfecta
54. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
55. A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome
56. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
57. Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice
58. The Soft Tissue Immunologic Response to Hydroxyapatite-Coated Transmucosal Implant Surfaces: A Study in Humans
59. Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum (PXE) patients and carriers, and correlate with the severity of the vascular phenotype
60. Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing (WES) and linkage analysis
61. Type I Procollagen C-Propeptide Defects: Study of Genotype–Phenotype Correlation and Predictive Role of Crystal Structure
62. Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
63. Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis
64. Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR‐Based Functional Screening of Osteoporosis Candidate Genes
65. G Protein‐Coupled Receptor Kinase 6 (GRK6) Regulation of Insulin Processing and Secretion
66. Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines
67. Digital Polymerase Chain Reaction for Assessment of Mutant Mitochondrial Carry-over after Nuclear Transfer for In Vitro Fertilization
68. Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?
69. Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing (WES) and linkage analysis
70. Identification of skeletal deformities towards deep phenotyping of zebrafish (Danio rerio) connective tissue disease models
71. Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum
72. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
73. Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.
74. The ZE-Tunnel: An Affordable, Easy-to-Assemble, and User-Friendly Benchtop Zebrafish Swim Tunnel
75. Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
76. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
77. Aneurysm syndromes caused by mutations in the TGF-beta receptor
78. b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage Region
79. Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum
80. Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery
81. A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing
82. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa
83. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. (Report)
84. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
85. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias
86. Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation
87. Stapes Surgery in Osteogenesis Imperfecta: Retrospective Analysis of 34 Operated Ears
88. GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling
89. Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
90. Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?
91. Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
92. Functional Polymorphism in Gamma-Glutamylcarboxylase is a Risk Factor for Severe Neonatal Hemorrhage
93. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
94. Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations
95. The corneoscleral shape in Marfan syndrome
96. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
97. Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders
98. Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
99. b3galt6knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
100. Novel insights into the structure and transport mechanisms of TAPT1
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