المؤلفون: Qi, Mengling, Zhang, Haoyang, Xiu, Xuehao, He, Dan, Cooper, David N., Yang, Yuanhao, Zhao, Huiying^{Aff1, IDs00439024026616_cor7}

المصدر: Human Genetics. :1-14

المؤلفون: Duffy, Áine^{Aff1, Aff2}, Petrazzini, Ben Omega^{Aff1, Aff2, Aff3}, Stein, David^{Aff1, Aff2, Aff4}, Park, Joshua K.^{Aff1, Aff2, Aff5}, Forrest, Iain S.^{Aff1, Aff2, Aff5}, Gibson, Kyle^{Aff1, Aff2, Aff5}, Vy, Ha My^{Aff1, Aff2, Aff3}, Chen, Robert^{Aff1, Aff2, Aff5}, Márquez-Luna, Carla^{Aff1, Aff2}, Mort, Matthew, Verbanck, Marie, Schlessinger, Avner, Itan, Yuval^{Aff1, Aff2, Aff8}, Cooper, David N., Rocheleau, Ghislain^{Aff1, Aff2, Aff3}, Jordan, Daniel M.^{Aff1, Aff2, Aff3}, Do, Ron^{Aff1, Aff2, Aff3, IDs41588023016092_cor17}

المصدر: Nature Genetics. 56(1):51-59

المؤلفون: Spyk Sebastian, Thomas Nick, Cooper David N, Upadhyaya Meena

المصدر: Human Genomics, Vol 5, Iss 6, Pp 623-690 (2011)

مصطلحات موضوعية: NF1, somatic mutations, germline mutations, pathogenesis, tumorigenesis, tumour, benign, malignant, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.humgenomics.com/content/5/6/623; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/7342d8c034f141239de741cab5d09740

المؤلفون: Naidoo Nasheen, Pawitan Yudi, Soong Richie, Cooper David N, Ku Chee-Seng

المصدر: Human Genomics, Vol 5, Iss 6, Pp 577-622 (2011)

مصطلحات موضوعية: Human Genome Project, International HapMap Project, 1000 Genomes Project, genome-wide association studies, single nucleotide polymorphisms, copy number variations, next-generation sequencing technologies, cancer genome sequencing, exome sequencing, complex disease, Mendelian disorders, personalised genomic medicine, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.humgenomics.com/content/5/6/577; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/e76d0c0bae704e8295189a4f24ab5850

المؤلفون: Zhang Guojie, Pei Zhang, Ball Edward V, Mort Matthew, Kehrer-Sawatzki Hildegard, Cooper David N

المصدر: Human Genomics, Vol 5, Iss 5, Pp 453-484 (2011)

مصطلحات موضوعية: Human, chimpanzee, Neanderthal, Denisovan hominin, genome sequence, potentially compensated mutations, disease, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.humgenomics.com/content/5/5/453; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/3f3b60782ae94a4a9b3be954f39e2ac7

المؤلفون: Hamby Stephen E, Thomas Nick ST, Cooper David N, Chuzhanova Nadia

المصدر: Human Genomics, Vol 5, Iss 4, Pp 241-264 (2011)

مصطلحات موضوعية: human inherited disease, stop codon, 3'-untranslated region, nonstop mutation, nonstop mRNA decay, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.humgenomics.com/content/5/4/241; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/a1456fb17bcc43f19c08709acd1459d3

المؤلفون: Cooper David N, Kehrer-Sawatzki Hildegard

المصدر: Human Genomics, Vol 5, Iss 2, Pp 99-107 (2011)

مصطلحات موضوعية: human-specific genes, evolution, disease genes, complex disease, mutations, polymorphisms, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.humgenomics.com/content/5/2/99; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/1d14b6b4ec634c74815f67ece96ee137

المؤلفون: Stenson Peter D, Cooper David N

المصدر: Human Genomics, Vol 5, Iss 1, Pp 1-4 (2010)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.humgenomics.com/content/5/1/1; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/3ee0ac892cde4590bbf9f578d8d5b694

المؤلفون: Millar David S, Tysoe Carolyn, Lazarou Lazarus P, Pilz Daniela T, Mohammed Shehla, Anderson Katharine, Chuzhanova Nadia, Cooper David N, Butler Rachel

المصدر: Human Genomics, Vol 4, Iss 6, Pp 384-393 (2010)

مصطلحات موضوعية: lissencephaly, PAFAH1B1 gene, mitochondrial genome, insertion, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.humgenomics.com/content/4/6/384; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/8ded9511f4c84ab8a12f02bb7a3baade

المؤلفون: Cooper David N, Mort Matthew, Stenson Peter D, Ball Edward V, Chuzhanova Nadia A

المصدر: Human Genomics, Vol 4, Iss 6, Pp 406-410 (2010)

مصطلحات موضوعية: CpG dinucleotide, CpNpGp trinucleotide, cytosine methylation, 5-methylcytosine deamination, mutation hot-spots, human inherited disease, missense/nonsense mutations, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.humgenomics.com/content/4/6/406; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/539a2c7f315743bda3956f7c2fc07a93