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1دورية أكاديمية
المؤلفون: Kelley, Richard I, Wilcox, William G, Smith, Moyra, Kratz, Lisa E, Moser, Ann, Rimoin, David S
المصدر: American Journal of Medical Genetics. 83(3)
مصطلحات موضوعية: Clinical Research, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Chondrodysplasia Punctata, Genes, Lethal, Humans, Lipid Metabolism, Inborn Errors, Sterols, Syndrome, chondrodysplasia punctata, cholesterol metabolism, rhizomelic dwarfism, Cholesterol metabolism, Chondrodysplasia punctata, Rhizomelic dwarfism, cholesterol, article, calcifying chondrodystrophy, child, chondrodysplasia, chondropathy, clinical article, dwarfism, enzyme deficiency, fetus, human, infant, priority journal, syndrome delineation, X chromosome linkage, Genetics, Clinical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9bk598rv
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2
المصدر: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosarioمصطلحات موضوعية: Male, Intraocular pressure, Visual acuity, genetic structures, Genetic Linkage, Periphery, medicine.medical_treatment, Visual Acuity, Optic disk, Retinoschisis, Cryotherapy, Review, Gene, Homozygosity, chemistry.chemical_compound, Eye proteins, Females, Child, Middle aged, Fovea, Aged, 80 and over, Laser Coagulation, Genetic analysis, Retinal detachment, General Medicine, Middle Aged, Bilateral, Pedigree, Scleral Buckling, Retrospective study, Phenotype, Cataract extraction, Child, Preschool, Female, Multigene family, medicine.symptom, Scleral buckling, Dendritic cell, Linkage analysis, Human, Adult, medicine.medical_specialty, Adolescent, Genotype, Clinical article, Cataract Extraction, Cataract, preschool, Linkage (genetics), X chromosome linkage, Cataracts, Ophthalmology, Genetic screening, medicine, Genotype phenotype correlation, Humans, Gene mutation, Sclera buckling procedure, Eye Proteins, Long-term follow-up, Intraocular Pressure, Retrospective Studies, Aged, X-linked, Retina macula degeneration, business.industry, Retinal Detachment, Retinal, medicine.disease, X linked retinoschisis, Laser coagulation, eye diseases, Retrospective studies, chemistry, sense organs, business, Genetic counseling
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4375b9f6944d2545bc57a8e37521b70c
https://repository.urosario.edu.co/handle/10336/22931 -
3
مصطلحات موضوعية: History, visual acuity, Vision, Stiles-Crawford, albinism, Eye, Dystrophy, Diabetes mellitus, Macular pigment, Melanin, retina macula age related degeneration, Rod, device, Genetic disorder, lipofuscin, Reflectometry, spectral sensitivity, Ophthalmoscopes, imaging system, Scanning laser opthalmoscope, laser coagulation, light absorption, sclera, retina macula cystoid edema, Cone, camera, Ocular Physiology, lens, Dominant inheritance, retina macula edema, Ocular reflectors, X chromosome linkage, cornea, retinitis pigmentosa, retinopathy, oximetry, myopia, nerve fiber, amblyopia, Fundus, Photoreceptor, videorecording, aging, Glaucoma, hemoglobin, calibration, photography, pigment epithelium, Ophthalmology, Visual pigment, Densitometry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___00893::a62c3cb11503eca99eacf0cd6977efdb
http://resolver.tudelft.nl/uuid:12e7126f-aba5-4676-aa07-4f2360061c3c -
4
المؤلفون: Berendschot, T.T.J.M., Delint, P.J., Norren, D. van
المساهمون: TNO Technische Menskunde
المصدر: Progress in retinal and eye research, 2, 22, 171-200
مصطلحات موضوعية: History, visual acuity, Vision, Stiles-Crawford, albinism, Eye, Dystrophy, Diabetes mellitus, Macular pigment, Melanin, retina macula age related degeneration, Rod, device, Genetic disorder, lipofuscin, Reflectometry, spectral sensitivity, Ophthalmoscopes, imaging system, Scanning laser opthalmoscope, laser coagulation, light absorption, sclera, retina macula cystoid edema, Cone, camera, Ocular Physiology, lens, Dominant inheritance, retina macula edema, Ocular reflectors, X chromosome linkage, cornea, retinitis pigmentosa, retinopathy, oximetry, myopia, nerve fiber, amblyopia, Fundus, Photoreceptor, videorecording, aging, Glaucoma, hemoglobin, calibration, photography, pigment epithelium, Ophthalmology, Visual pigment, Densitometry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a2f6683d6e6a8d845afd11268e05b769
http://resolver.tudelft.nl/uuid:12e7126f-aba5-4676-aa07-4f2360061c3c -
5
المؤلفون: Gabriele Gentile, Torre, A. D., Maegga, B., Powell, J. R., Caccone, A.
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Settore BIO/05, sequence analysis, Evolution, ribosome DNA, DNA sequence, malaria, disease carrier, sympatry, taxonomy, X chromosome linkage, genetic variability, Anopheles, Arachnida, genetic difference, Animals, sibling, chromosome arm, Ribosomal, internal transcribed spacer, nucleotide, spacer DNA, Africa, allele, Anopheles gambiae, article, gene linkage disequilibrium, heterozygote, insecticide resistance, nonhuman, nucleotide sequence, priority journal, DNA, Ribosomal, Evolution, Molecular, Malaria, Anopheles arabiensis, Hexapoda, Molecular, DNA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8473bd378528f51ef0bb1c4978eef4c5
http://hdl.handle.net/2108/42671 -
6
المؤلفون: M Cimbis, Kocoglu, Cemaliye B Akyerli, Tayfun Ozcelik, M Topcu, Gokce Altay Toruner, Ayca Sayi
المساهمون: Çocuk Sağlığı ve Hastalıkları
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Male, Methyl CpG binding protein 2, Neurologic disease, Unclassified drug, Chromosomal Proteins, Non-Histone, Methyl-CpG-Binding Protein 2, Gene mutation, medicine.disease_cause, Chromosome mosaicism, Infant, newborn, Rett syndrome, Methyl-CpG-binding protein 2, Neurodevelopmental disorder, Hemizygosity, Binding protein, Child, Genetics (clinical), Priority journal, Genetics, Mutation, Mosaicism, Karyotype, Phenotype, Somatic mosaicism, MECP2, DNA-Binding Proteins, Codon, Nonsense, Child, Preschool, Female, Human, Codon, nonsense, congenital, hereditary, and neonatal diseases and abnormalities, Child, preschool, Developmental disorder, Chromosome analysis, Biology, Article, Disease association, X chromosome linkage, Case report, DNA-binding proteins, mental disorders, medicine, Rett Syndrome, Humans, Disease severity, Chromosomal proteins, non-histone, Infant, Newborn, Infant, medicine.disease, Repressor Proteins, Clinical feature, School child, Controlled study, Repressor proteins
وصف الملف: text/plain; application/pdf
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7
المؤلفون: Zalewski, Zbigniew
مصطلحات موضوعية: X chromosome linkage, scientific research, methodology, scientific theory, homosexuality, ethics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3647::c2affe517d52b2968ee87a023419c3ed
http://ruj.uj.edu.pl/xmlui/handle/item/2443 -
8مورد إلكتروني
مصطلحات الفهرس: Argus X-12; X-chromosome; Linkage disequilibrium; Allelic association; Simulations, Genetics, Genetik, Article in journal, info:eu-repo/semantics/article, text
URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-187286
Forensic Science International : Genetics, 1872-4973, 2022, 60 -
9مورد إلكتروني
المؤلفون: Tillmar, Andreas, Kling, Daniel, Butler, John M., Parson, Walther, Prinz, Mechthild, Schneider, Peter M., Egeland, Thore, Gusmao, Leonor
مصطلحات الفهرس: X chromosome; Linkage; Linkage disequilibrium; Haplotype; Recombination; Paternity; Kinship, Medical Genetics, Medicinsk genetik, Article in journal, info:eu-repo/semantics/article, text
URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-138877
Forensic Science International : Genetics, 1872-4973, 2017, 29, s. 269-275 -
10مورد إلكتروني
المؤلفون: Tonge B., Turner G., Partington M., Mowat D., Einfeld S.
مصطلحات الفهرس: sex difference, adolescent, article, child, disability, Down syndrome/et [Etiology], family history, female, human, major clinical study, male, mental deficiency/et [Etiology], priority journal, X chromosome linkage, X chromosome linked disorder/et [Etiology], Article
URL:
https://repository.monashhealth.org/monashhealthjspui/handle/1/33316
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