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1
المؤلفون: Nadine Kraemer, Alessandro Prigione, Mohsan Hanif, Na Li, Hao Hu, Xiang Fang, Cynthia Gutierrez de Velazco, Angela M. Kaindl, Abdul Waheed, Ethiraj Ravindran, Ali Ghazanfar, Sadia Mughal, Sami Zaqout
المصدر: Journal of Medical Genetics. 59:453-461
مصطلحات موضوعية: 0301 basic medicine, Genetics, missense, nervous system diseases, Mutation, Microcephaly, genetic association studies, DNA replication, Biology, medicine.disease_cause, medicine.disease, Phenotype, Neural stem cell, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Intellectual disability, medicine, Missense mutation, mutation, Stem cell, 030217 neurology & neurosurgery, Genetics (clinical), Immunostaining
وصف الملف: application/pdf
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المؤلفون: Yao Yu, Chad D. Huff, Hao Hu, Paul Scheet, Fulan Hu, Jiun Sheng Chen
المصدر: Journal of Medical Genetics. 58:145-153
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Mutation, Missense, Biology, Germline, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, Exome Sequencing, Genetic variation, Genetics, medicine, Humans, Missense mutation, Exome, Genetic Predisposition to Disease, 1000 Genomes Project, Germ-Line Mutation, Genetics (clinical), Aged, Neurofibromin 1, Soft tissue sarcoma, Sarcoma, Middle Aged, medicine.disease, DNA-Binding Proteins, Germ Cells, MutS Homolog 2 Protein, 030104 developmental biology, MSH2, 030220 oncology & carcinogenesis, Medical genetics, Female, Tumor Suppressor Protein p53, Genome-Wide Association Study, Transcription Factors
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المؤلفون: Ke-wei Wang, Weijian Chen, Jingliang He, Lei Dai, Lihong Tan, Lingqian Wu, Yongjia Yang, Yimin Zhu, Jihong Guo, Desheng Liang, Ming Tu, Hao Hu
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Infertility, Male, genetic processes, RAD51, Mice, Transgenic, Biology, medicine.disease_cause, 03 medical and health sciences, Mice, 0302 clinical medicine, Meiosis, Novel Disease Loci, Exome Sequencing, Genetics, medicine, Animals, Humans, Gene Knock-In Techniques, Child, Homologous Recombination, Genetics (clinical), Infertility, Male, Azoospermia, Mutation, XRCC2 mutation, Ovary, medicine.disease, Premature ovarian failure, Pedigree, DNA-Binding Proteins, Mice, Inbred C57BL, enzymes and coenzymes (carbohydrates), meiotic arrest, 030104 developmental biology, DMC1, Female, biological phenomena, cell phenomena, and immunity, Homologous recombination, infertility, Infertility, Female, 030217 neurology & neurosurgery