294 results on '"Knoers N"'
Search Results
52. Male patients affected by mosaic PCDH19 mutations: five new cases.
53. [From gene to disease; mutations in the SLC12A3 gene as the cause of Gitelman's syndrome]
54. De behandeling van hypomagnesiëmie
55. CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia
56. PMD118 - Impact of Whole Exome Sequencing (WES) on Costs and Medical Decision-Making
57. EUNEFRON, the European Network for the Study of Orphan Nephropathies
58. Aberrant proteoglycan composition of the glomerular basement membrane in a patient with Denys-Drash syndrome
59. Renal development / Cystic diseases
60. Genetic diseases
61. Aberrant proteoglycan composition of the glomerular basement membrane in a patient with Denys-Drash syndrome
62. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
63. Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome
64. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis
65. Growth charts for Wolf-Hirschhorn syndrome (0–4 years of age)
66. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
67. Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus
68. Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model
69. Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line
70. Bladder function impairment in aquaporin-2 defective nephrogenic diabetes insipidus
71. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
72. Genetic linkage of two different phenotypes of rod and cone dystrophy in a family with pseudo-dominant inheritance to 1p21-p13
73. Genetic and environmental risk factors in Parkinson’s disease
74. A common NKCC2 mutation in Costa Rican Bartter's syndrome patients
75. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.
76. Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
77. Functional rescue of vasopres sin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus.
78. Urinary excretion of prostaglandins during infancy and childhood: Influence of age, sodium restriction and posture
79. Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model.
80. Fibrinolytic Responses to 1-Desamino-8-D-Arginine-Vasopressin in Patients with Congenital Nephrogenic Diabetes insipidus
81. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.
82. Physiology and pathophysiology of the aquaporin-2 water channel.
83. Molecular and cellular defects in nephrogenic diabetes insipidus.
84. Linkage of X-Linked Nephrogenic Diabetes insipidus with DXS52, a Polymorphic DNA Marker.
85. Aquaporin molecular biology and clinical abnormalities of the water transport channels.
86. Regulation of the vasopressin V2 receptor by vasopressin in polarized renal collecting duct cells.
87. Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene.
88. Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.
89. Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus
90. A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney
91. The underlying mechanism of lithium-induced nephrogenic diabetes insipidus,Lithium-geïnduceerde nefrogene diabetes insipidus: Focus op het onderliggend mechanisme
92. De structuur en ontogenie van type IV collageen ketens in de glomerulaire basaalmembraan (GBM)
93. EUNEFRON, the European Network for the Study of Orphan Nephropathies
94. Identification of a human D-lactate dehydrogenase
95. Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus
96. Evidence for intact V1-vasopressin receptors in congenital nephrogenic diabetes insipidus
97. Gitelman syndrome
98. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.
99. Characterization of a recurrent 15q24 microdeletion syndrome
100. Hope, but never expect? Comparing parents' pre- and post-disclosure attitudes toward return of results from diagnostic exome sequencing for their child.
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