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1دورية أكاديمية
المؤلفون: Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: Autosomal recessive anophthalmia and microphthalmia, ALDH1A3 gene, Mutations, Variants, Exome sequencing, Consanguineous families, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Emma L. Baple, Gaurav V. Harlalka, Siying Lin, Noor Muhammad, Shamim Saleha, Hadia Moattar Reham, Abdul Hameed, Saadullah Khan, Andrew H. Crosby, Muhammad Yasin
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)
BMC Medical Geneticsمصطلحات موضوعية: Male, Exome sequencing, 0301 basic medicine, lcsh:Internal medicine, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Genes, Recessive, 030105 genetics & heredity, Biology, Consanguineous families, Microphthalmia, Frameshift mutation, Consanguinity, Autosomal recessive anophthalmia and microphthalmia, 03 medical and health sciences, Exon, ALDH1A3 gene, Genetics, medicine, Humans, Microphthalmos, Missense mutation, Exome, lcsh:RC31-1245, Genetics (clinical), Anophthalmia, Variants, Anophthalmos, Exons, Sequence Analysis, DNA, medicine.disease, Aldehyde Oxidoreductases, eye diseases, Pedigree, lcsh:Genetics, 030104 developmental biology, Mutation, Female, Allelic heterogeneity, sense organs, Mutations, Research Article
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3
المؤلفون: Cem Yildirim, Ersan Kalay, Nurten A. Akarsu, C. Nur Semerci, Akgün Ölmez, Volkan Okur, Ali Koçyiğit, Yunus Bulgu, Bayram Toraman, Lale Şatıroğlu-Tufan, Tuba Dinçer
المصدر: British Journal of Ophthalmology. 98:832-840
مصطلحات موضوعية: Male, genetic association, RNA splicing, sequence analysis, DNA Mutational Analysis, anophthalmia, medicine.disease_cause, Polymerase Chain Reaction, Microphthalmia, chromosome 15q, Exon, single nucleotide polymorphism, Microphthalmos, Missense mutation, Child, Genetics, clinical article, Mutation, Reverse Transcriptase Polymerase Chain Reaction, article, Disease gene identification, Aldehyde Oxidoreductases, Sensory Systems, Pedigree, female, priority journal, Female, amino acid substitution, exon skipping, mutational analysis, gene locus, Adolescent, Genotype, Molecular Sequence Data, Mutation, Missense, autism, Genes, Recessive, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, reverse transcription polymerase chain reaction, pedigree analysis, Cellular and Molecular Neuroscience, ALDH1A3 gene, mental deficiency, medicine, Humans, controlled study, human, gene, Gene, Chromosomes, Human, Pair 15, Anophthalmia, Base Sequence, human cell, missense mutation, Anophthalmos, gene mapping, medicine.disease, Molecular biology, Ophthalmology, microphthalmia, RNA Splice Sites
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4دورية أكاديمية
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5دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.