-
1دورية أكاديمية
المؤلفون: L. D’Abate, S. Walker, R. K. C. Yuen, K. Tammimies, J. A. Buchanan, R. W. Davies, B. Thiruvahindrapuram, J. Wei, J. Brian, S. E. Bryson, K. Dobkins, J. Howe, R. Landa, J. Leef, D. Messinger, S. Ozonoff, I. M. Smith, W. L. Stone, Z. E. Warren, G. Young, L. Zwaigenbaum, S. W. Scherer
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-9 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
2
المؤلفون: C, Peña-Padilla, C R, Marshall, S, Walker, S W, Scherer, G, Tavares-Macías, G, Razo-Jiménez, L, Bobadilla-Morales, E, Acosta-Fernández, A, Corona-Rivera, R, Mendoza-Londono, J R, Corona-Rivera
المصدر: Clinical genetics. 91(4)
مصطلحات موضوعية: Male, Heterozygote, High-Throughput Nucleotide Sequencing, Ciliopathies, Pedigree, Craniosynostoses, Intellectual Disability, Humans, Exome, Female, Genetic Predisposition to Disease, RNA Splice Sites, Carrier Proteins, Sequence Deletion
-
3
المؤلفون: A B, Csóka, G I, Frost, H H, Heng, S W, Scherer, G, Mohapatra, R, Stern, T B, Csóka
المصدر: Genomics. 48:63-70
مصطلحات موضوعية: Lung Neoplasms, Molecular Sequence Data, Hyaluronoglucosaminidase, Chromosome 9, Locus (genetics), Biology, Polymerase Chain Reaction, Homology (biology), Mice, Gene mapping, Tumor Cells, Cultured, Genetics, medicine, Animals, Humans, Genes, Tumor Suppressor, Amino Acid Sequence, Cloning, Molecular, Gene, Conserved Sequence, In Situ Hybridization, Fluorescence, Sequence Tagged Sites, Expressed sequence tag, Sequence Homology, Amino Acid, medicine.diagnostic_test, Homozygote, Nucleic acid sequence, Chromosome Mapping, Blotting, Northern, Molecular biology, Recombinant Proteins, Chromosomes, Human, Pair 3, Fluorescence in situ hybridization
-
4
المؤلفون: M T, Carter, S W, Scherer
المصدر: Clinical genetics. 83(5)
مصطلحات موضوعية: Chromosome Aberrations, Child Development Disorders, Pervasive, Recurrence, Mutation, PTEN Phosphohydrolase, Humans, Genetic Counseling, Genetic Testing, Child, Microarray Analysis
-
5
المؤلفون: S, Venkateswaran, K, Zheng, M, Sacchetti, D, Gagne, D L, Arnold, A D, Sadovnick, S W, Scherer, B, Banwell, A, Bar-Or, D K, Simon, Leanne, Montgomery
مصطلحات موضوعية: Adult, Male, Haplogroup M, medicine.medical_specialty, Adolescent, Haplogroup H, Population, Single-nucleotide polymorphism, Biology, DNA, Mitochondrial, Polymorphism, Single Nucleotide, Haplogroup, Cohort Studies, Young Adult, Internal medicine, medicine, Humans, Prospective Studies, education, Child, First episode, education.field_of_study, Haplotype, Genetic Variation, Infant, Articles, Haplotypes, Child, Preschool, Immunology, Mutation, Female, Neurology (clinical), Human mitochondrial DNA haplogroup, Demyelinating Diseases, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::714051a5fc4033a0d70d3e9848bb6205
https://europepmc.org/articles/PMC3053335/ -
6
المؤلفون: A. S. Bassett, C. R. Marshall, A. C. Lionel, E. W.C. Chow, S. W. Scherer
مصطلحات موضوعية: 03 medical and health sciences, 0302 clinical medicine, Genetics, General Medicine, Corrigendum, Molecular Biology, 030217 neurology & neurosurgery, Genetics (clinical), 030227 psychiatry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36d4ccfd3278bc88632aa7cd3ca86844
https://europepmc.org/articles/PMC3134192/ -
7
المؤلفون: B A, Fernandez, J, Siegel-Bartelt, J-A S, Herbrick, I, Teshima, S W, Scherer
المصدر: Clinical genetics. 68(4)
مصطلحات موضوعية: Adult, Child, Preschool, Holoprosencephaly, Infant, Newborn, Humans, Chromosomes, Human, Pair 6, Female, Gene Silencing, Child, Cleidocranial Dysplasia, Physical Chromosome Mapping, Chromosomes, Human, Pair 7, Translocation, Genetic
-
8
المؤلفون: B A, Minassian, D M, Andrade, L, Ianzano, E J, Young, E, Chan, C A, Ackerley, S W, Scherer
المصدر: Annals of neurology. 49(2)
مصطلحات موضوعية: Amyotrophic Lateral Sclerosis, Cell Membrane, Humans, Protein Tyrosine Phosphatases, Endoplasmic Reticulum, Myoclonic Epilepsies, Progressive, Protein Tyrosine Phosphatases, Non-Receptor
-
9
المؤلفون: C G, Wong, S W, Scherer, O C, Snead, D R, Hampson
المصدر: Brain research. Molecular brain research. 87(1)
مصطلحات موضوعية: Male, Myoclonic Epilepsy, Juvenile, Chromosome Mapping, Humans, Chromosomes, Human, Pair 6, Exons, Receptors, Metabotropic Glutamate, In Situ Hybridization, Fluorescence, Introns, Gene Library
-
10
المؤلفون: S, Tosi, J, Harbott, A, Teigler-Schlegel, O A, Haas, H, Pirc-Danoewinata, C J, Harrison, A, Biondi, G, Cazzaniga, H, Kempski, S W, Scherer, L, Kearney
المصدر: Genes, chromosomescancer. 29(4)
مصطلحات موضوعية: Male, Chromosomes, Human, Pair 12, Leukemia, Proto-Oncogene Proteins c-ets, Infant, Newborn, Infant, Chromosome Breakage, Translocation, Genetic, DNA-Binding Proteins, Repressor Proteins, Humans, Female, Chromosomes, Human, Pair 7, In Situ Hybridization, Fluorescence, Transcription Factors