276 results on '"Giurgea, Irina"'
Search Results
52. Acute pancreatitis in paediatric systemic lupus erythematosus
53. CLINICAL CASE SEMINAR: Respiratory Chain Defects May Present Only with Hypoglycemia
54. Neonatal hypoglycaemia: aetiologies
55. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement
56. Acute Insulin Responses to Calcium and Tolbutamide Do Not Differentiate Focal from Diffuse Congenital Hyperinsulinism
57. In familial Mediterranean fever, soluble TREM-1 plasma level is higher in case of amyloidosis
58. Specific changes in faecal microbiota are associated with familial Mediterranean fever
59. The NLRP3 p.A441V Mutation in NLRP3 ‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event
60. Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome?
61. Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement
62. Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor.
63. Inflammasome biology, molecular pathology and therapeutic implications
64. Photoaging and skin cancer: Is the inflammasome the missing link?
65. Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
66. Mowat-Wilson syndrome in a Moroccan consanguineous family
67. Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
68. Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation
69. SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.: Genotype-phenotype relevance in 20q13.2 gain
70. Mowat-Wilson syndrome: neurological and molecular study in seven patients
71. A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice
72. Hyperinsulinemic hypoglycemia in children
73. Disease-causing variants in TCF4are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
74. Molecular and cellular issues of KMT2Avariants involved in Wiedemann-Steiner syndrome
75. Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
76. Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion
77. Extended spectrum of MBD5 mutations in neurodevelopmental disorders
78. Molecular mechanisms of neonatal hyperinsulinism.
79. Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.
80. The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
81. The Knudson's two-hit phenomenon and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism
82. Hyperinsulinemic hypoglycemia in children.
83. Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.
84. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
85. Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
86. Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy
87. A One-Step Prescreening for Point Mutations and Large Rearrangement in BRCA1 and BRCA2 Genes Using Quantitative Polymerase Chain Reaction and High-Resolution Melting Curve Analysis
88. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
89. Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion
90. TCF4Deletions in Pitt-Hopkins Syndrome
91. S12.24 Mutations in UCP2 in congenital hyperinsulinism reveal a role in human beta cell disease
92. Acute pancreatitis in paediatric systemic lupus erythematosus
93. Mowat-Wilson syndrome: neurological and molecular study in seven patients.
94. Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy
95. A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region
96. Respiratory chain deficiency in a female with Aicardi-Goutières syndrome
97. Molecular Mechanisms of Neonatal Hyperinsulinism
98. Respiratory Chain Defects May Present Only with Hypoglycemia
99. Underdiagnosis of mild congenital disorders of glycosylation type Ia
100. Mitochondrial Complex I Deficiency in Humans
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