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المؤلفون: Peter Sonderegger, Thomas Hasler, M.A. Leversha, Lesley Rooke, Susan Kenwrick
المساهمون: University of Zurich, Kenwrick, Susan
مصطلحات موضوعية: Male, Microcephaly, 2716 Genetics (clinical), Molecular Sequence Data, 610 Medicine & health, Biology, Polymerase Chain Reaction, 142-005 142-005, Facial Bones, law.invention, Mice, Gene mapping, 1311 Genetics, law, Cricetinae, Genetics, medicine, 1312 Molecular Biology, Animals, Humans, Van der Woude syndrome, Base sequence, Molecular Biology, Gene, Genetics (clinical), Polymerase chain reaction, DNA Primers, chemistry.chemical_classification, Base Sequence, Cell adhesion molecule, Genes, pX, Skull, Chromosome Mapping, General Medicine, medicine.disease, chemistry, Chromosomes, Human, Pair 1, 570 Life sciences, biology, Female, Glycoprotein
وصف الملف: ZORA_NL_154660.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03ae9d49ede522f731af564de4699184Test
http://doc.rero.ch/record/302730/files/2-9-1461.pdfTest -
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المؤلفون: Maria Lioumi, M.G. Olavesen, Jiannis Ragoussis, Dean Nizetic
مصطلحات موضوعية: Cloning, Genetics, Expressed sequence tag, DNA, Complementary, Base Sequence, Databases, Factual, Contig, Chromosome Mapping, Gene Expression, Chromosome, DNA Fragmentation, Filaggrin Proteins, Biology, Gene mapping, Chromosomes, Human, Pair 1, Gene expression, Cosmid, Humans, Bacteriophage P1, Cloning, Molecular, Chromosomes, Artificial, Yeast, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afcd6070d881bd9a2b80660f096d6139Test
https://ora.ox.ac.uk/objects/uuid:c1089f0e-0218-4a16-81b7-e7179c7d4404Test -
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المؤلفون: Robert K. Moyzis, Harold Riethman, Deborah L. Grady, H.-C. Chi, Jonathan Flint, E. Morse, Z. Xiang, X.-L. Hu
مصطلحات موضوعية: Genetics, Expressed Sequence Tags, Chromosomes, Artificial, Bacterial, Contig, Molecular Sequence Data, UniGene, Chromosome, Sequence Analysis, DNA, Biology, Telomere, Cosmids, DNA Fingerprinting, DNA sequencing, Contig Mapping, Gene mapping, Chromosomes, Human, Pair 1, Cosmid, Humans, Chromosomes, Artificial, Yeast, Reference genome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a822f89e209234bde937d5af1ed3f4dTest
https://ora.ox.ac.uk/objects/uuid:83cf8ce0-fa60-4a39-a95e-8304f413372eTest -
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المؤلفون: Howard W. Wiener, Brahim Aissani, Kui Zhang
المصدر: PLoS ONE
PLoS ONE, Vol 11, Iss 4, p e0153794 (2016)مصطلحات موضوعية: 0301 basic medicine, Linkage disequilibrium, Physiology, lcsh:Medicine, Biochemistry, Body Mass Index, Fats, 0302 clinical medicine, Mathematical and Statistical Techniques, Medicine and Health Sciences, Ethnicities, lcsh:Science, 2. Zero hunger, Genetics, African Americans, Multidisciplinary, Chromosome Biology, Chromosome Mapping, Population groupings, Middle Aged, Lipids, Physiological Parameters, Adipose Tissue, Chromosomes, Human, Pair 1, Physical Sciences, Female, Statistics (Mathematics), Research Article, Adult, Quantitative Trait Loci, Single-nucleotide polymorphism, Biology, Quantitative trait locus, Research and Analysis Methods, Chromosomes, 03 medical and health sciences, Gene Types, Genetic model, SNP, Humans, Obesity, Statistical Methods, Molecular Biology Techniques, Genotyping, Molecular Biology, lcsh:R, Body Weight, Gene Mapping, Chromosome, Biology and Life Sciences, Cell Biology, 030104 developmental biology, Regulator Genes, lcsh:Q, People and places, Body mass index, 030217 neurology & neurosurgery, Mathematics, Meta-Analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac758d35c41480646721021e37e2698Test
http://europepmc.org/articles/PMC4844098Test -
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المؤلفون: Juan Carlos Zenteno, Raul Ayala-Ramirez, Cristina Villanueva-Mendoza, Beatriz Buentello-Volante
المصدر: American Journal of Medical Genetics Part A. 155:1001-1006
مصطلحات موضوعية: Adult, Genetic Linkage, Population, Genes, Recessive, Nerve Tissue Proteins, Single-nucleotide polymorphism, Biology, Polymerase Chain Reaction, Microphthalmia, Gene mapping, Retinitis pigmentosa, Genetics, medicine, Humans, Microphthalmos, Eye Proteins, education, Genetics (clinical), education.field_of_study, CRB1, Homozygote, Chromosome Mapping, Membrane Proteins, Exons, medicine.disease, Disease gene identification, Chromosomes, Human, Pair 1, Female, Retinitis Pigmentosa, Retinal Dystrophies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43ed0d75382047faf5bca9787c830cdeTest
https://doi.org/10.1002/ajmg.a.33862Test -
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المؤلفون: Jae-Jung, Kim, Young Mi, Hong, Saejung, Sohn, Gi Young, Jang, Kee-Soo, Ha, Sin Weon, Yun, Myung Ki, Han, Kyung-Yil, Lee, Min Seob, Song, Hyoung Doo, Lee, Dong Soo, Kim, Jong-Eun, Lee, Eun-Soon, Shin, Ji-Hyun, Jang, Yeon-Su, Lee, Sook-Young, Kim, Jong-Young, Lee, Bok-Ghee, Han, Jer-Yuarn, Wu, Kwi-Joo, Kim, Young-Mi, Park, Eul-Joo, Seo, In-Sook, Park, Jong-Keuk, Lee, Jae-Moo, Lee
المصدر: Human Genetics. 129:487-495
مصطلحات موضوعية: Adult, Male, Linkage disequilibrium, Mucocutaneous zone, Locus (genetics), Genome-wide association study, Mucocutaneous Lymph Node Syndrome, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Asian People, Gene mapping, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), Coronary Aneurysm, Odds ratio, medicine.disease, Chromosomes, Human, Pair 1, Genetic Loci, Chromosomes, Human, Pair 2, Immunology, Female, Kawasaki disease, Genome-Wide Association Study, SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b86a37b28cbde2cf562fef64d1a038b2Test
https://doi.org/10.1007/s00439-010-0937-xTest -
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المؤلفون: Joris Vermeesch, Eftychia Dimitriadou, Jeroen Breckpot, Helen Fryssira, Sophia Kitsiou-Tzeli, Meropi Tzoufi, Bernard Thienpont, Koenraad Devriendt, Katerina Theodoropoulos, Maria Syrrou
المصدر: European Journal of Medical Genetics. 52:393-397
مصطلحات موضوعية: Male, Adolescent, Locus (genetics), Biology, Gene mapping, Genetic linkage, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Ossicles, Breakpoint, Chromosome Mapping, Infant, Ear, Syndrome, General Medicine, medicine.disease, Conductive hearing loss, Branchial Region, medicine.anatomical_structure, Chromosomes, Human, Pair 1, Middle ear, Preauricular pit
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0be2d9a82d447878c57f00124157241Test
https://doi.org/10.1016/j.ejmg.2009.09.005Test -
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المؤلفون: Jill Clayton-Smith, Graeme C.M. Black, Stefan Mundlos, Rachel Louise Cole, Xiangdong Liu, Kay Metcalfe, Katherine A. Siminovitch, Sara Morara, Antonio Novelli, Marco Tartaglia, William G. Newman, May Tassabehji, Francesco Brancati
المصدر: American Journal of Medical Genetics Part A. :3034-3037
مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Zygote, Genes, Recessive, Locus (genetics), Libya, Biology, Gerodermia osteodysplastica, Extracellular matrix, Consanguinity, Young Adult, Gene mapping, Genetics, medicine, Humans, Abnormalities, Multiple, Pakistan, Allele, Connective Tissue Diseases, Genetics (clinical), Infant, Skin Diseases, Genetic, Physical Chromosome Mapping, medicine.disease, Pedigree, Skin Aging, Proton-Translocating ATPases, Chromosomes, Human, Pair 1, Osteogenesis imperfecta, Osteoporosis, Female, Wrinkly skin syndrome, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef3f6fa4ebc8f8fb33c1a0e374fba478Test
https://doi.org/10.1002/ajmg.a.32564Test -
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المؤلفون: Julie Zenger Hain, Michael Conklin, Ralph S. Lachman, Ludwine Messiaen, Serge Nolet, Fady M. Mikhail, Judy Franklin, Maria Descartes
المصدر: American Journal of Medical Genetics Part A. :2937-2943
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Skeletal anomalies, Biology, Bone and Bones, Growth hormone deficiency, Craniofacial Abnormalities, Young Adult, Molecular level, Gene mapping, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Brachydactyly, Chromosome, Syndrome, medicine.disease, Müllerian agenesis, Phenotype, Chromosomes, Human, Pair 1, Female, Chromosome Deletion, Skeletal abnormalities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9225da48cae469c8167a9f38a3b69388Test
https://doi.org/10.1002/ajmg.a.32550Test -
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المؤلفون: Yonehiro Kanemura, Hiroko Fujita, Yusei Nakata, Mitsuhiro Kato, Gen Nishimura, Nobuhiko Okamoto, Masahiro Kamada, Yoko Hiraki, Naomichi Matsumoto, Mami Yamasaki, Naoki Harada, Tomoko Ida
المصدر: American Journal of Medical Genetics Part A. :1241-1247
مصطلحات موضوعية: Adult, Male, Chromosomes, Artificial, Bacterial, Pathology, medicine.medical_specialty, Mutation, Missense, Chromosome Disorders, Neural Cell Adhesion Molecule L1, Biology, medicine.disease_cause, Adducted thumb, Central nervous system disease, Gene mapping, Genetics, medicine, Humans, Missense mutation, In Situ Hybridization, Fluorescence, Genetics (clinical), X chromosome, Mutation, Brain, Middle Aged, medicine.disease, Hydrocephalus, Chromosomes, Human, Pair 1, Child, Preschool, Female, Chromosome Deletion, Interphalangeal Joint
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5bc703882c0c57ab28275daa09c0472Test
https://doi.org/10.1002/ajmg.a.32275Test