452 results on '"Calvas P"'
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52. Les généraux de l’OAS à la prison de Tulle : réalités et rumeurs
53. Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis
54. Glaucome secondaire à une aniridie et glaucome congénital isolé dans une même fratrie : apports et limites de la génétique
55. Genetics of Keratoconus
56. Quality of DNA extracted from mouthwashes.
57. Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia
58. Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
59. A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy
60. Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants
61. Re-focusing on Agnathia-Otocephaly complex
62. X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings
63. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases
64. Novel B3GALTL mutation in Peters-plus Syndrome
65. ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity
66. Confirmation of RAX gene involvement in human anophthalmia
67. An ontological foundation for ocular phenotypes and rare eye diseases
68. Structural analysis of the RH-like blood group gene products in nonhuman primates
69. DNA-based Prenatal Diagnosis of Harlequin Ichthyosis with Residual ABCA12 Expression
70. Mutations in EDAR Account for One-Quarter of Non-ED1-Related Hypohidrotic Ectodermal Dysplasia
71. Molecular genetics of chimpanzee Rh-related genes: Their relationship with the R-C-E-F blood group system, the chimpanzee counterpart of the human rhesus system
72. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
73. Identification of a new locus for isolated familial keratoconus at 2p24
74. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
75. Intracellular Ferritin Accumulation in Neural and Extraneural Tissue Characterizes a Neurodegenerative Disease Associated with a Mutation in the Ferritin Light Polypeptide Gene
76. Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome
77. A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36
78. Characterization of the Three Immunoglobulin G Subclasses of Macaques
79. Neutrophil Alkaline Phosphatase Activity in Turner Syndrome
80. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes
81. Prenatal diagnosis of Norrie disease based on ultrasound findings
82. Activation of cryptic donor splice sites by non-coding and coding PAX6variants contributes to congenital aniridia
83. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
84. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
85. Diabetes Mellitus and Cognition
86. FOXE3mutations: genotype-phenotype correlations
87. FOXE3 mutations: genotype-phenotype correlations
88. Confirmation of FZD5implication in a cohort of 50 patients with ocular coloboma
89. Novel PXDNbiallelic variants in patients with microphthalmia and anterior segment dysgenesis
90. Recurrent heterozygous PAX6missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
91. Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia.
92. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
93. Confirmation of TENM3 Involvement in Autosomal Recessive Colobomatous Microphthalmia
94. Familial pleural fibrosis with ocular telangiectasia and male infertility: a new syndrome?
95. Genetics in microphthalmia
96. Specific gene in microphthalmia
97. <italic>FOXE3</italic> mutations: genotype‐phenotype correlations.
98. Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family
99. Syndromic manifestations in aniridia patients with PAX6 point mutations
100. Low cancer prevalence in polyglutamine expansion diseases.
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