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المؤلفون: Neelam Saini, Aneek Das Bhowmik, Sireesha Yareeda, Vijayasree Venkatapuram, Shaik Afshan Jabeen, Karthik Tallapaka, Ashwin Dalal, Shagun Aggarwal
المصدر: American Journal of Medical Genetics Part A. 191:238-248
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Sathish K. Ramaswamy, Aneek Das Bhowmik, Vijaya Kumar Pidugu, Ashwin Dalal, Sudha N. Rao, Usha R. Dutta, V.S. Vineeth, Amrita Bhattacherjee, Kumar Gautam Singh
المصدر: Genomics. 111:1108-1114
مصطلحات موضوعية: 0106 biological sciences, Positional cloning, Chromosomes, Human, Pair 20, Chromosome Disorders, Chromosomal translocation, Computational biology, Biology, 01 natural sciences, Genome, Translocation, Genetic, Chromosome Breakpoints, 03 medical and health sciences, Genetics, Humans, Genetic Testing, Sodium-Coupled Vitamin C Transporters, Gene, 030304 developmental biology, Whole genome sequencing, Chromosomes, Human, X, 0303 health sciences, Tumor Suppressor Proteins, Breakpoint, Intron, Sequence Analysis, DNA, Child, Preschool, Female, Nanopore sequencing, Rho Guanine Nucleotide Exchange Factors, 010606 plant biology & botany
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المصدر: Gene. 673:56-60
مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Developmental Disabilities, Nerve Tissue Proteins, Rett syndrome, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, MECP2, 03 medical and health sciences, 0302 clinical medicine, Seizures, Neuro-Oncological Ventral Antigen, Rett Syndrome, Genetics, medicine, Humans, Exome, Atypical Rett syndrome, Copy-number variation, In Situ Hybridization, Fluorescence, Protein Kinase C, Exome sequencing, Chromosomes, Human, Pair 14, RNA-Binding Proteins, Forkhead Transcription Factors, Sequence Analysis, DNA, General Medicine, medicine.disease, FOXG1, Phenotype, Gene Expression Regulation, Child, Preschool, Karyotyping, Female, Chromosome Deletion, 030217 neurology & neurosurgery
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المؤلفون: Aneek Das Bhowmik, Ishwar C. Verma, Ashwin Dalal, Ratna Dua Puri, Neethukrishna Kausthubham, Kausik Mandal, Anju Shukla, Neerja Gupta, Samarth Kulshrestha, Sunita Bijarnia-Mahay, Amita Moirangthem, Shubha R. Phadke, Stephanie L. Bielas, Gandham SriLakshmi Bhavani, Katta M. Girisha, Madhulika Kabra
المصدر: Hum Mutat
مصطلحات موضوعية: Prioritization, Genetics, 0303 health sciences, education.field_of_study, Homozygote, 030305 genetics & heredity, Population, Genomics, Biology, Article, Data set, 03 medical and health sciences, Gene Frequency, Exome Sequencing, Cohort, Humans, Exome, education, Mendelian disorders, Allele frequency, Genetics (clinical), Exome sequencing, 030304 developmental biology, Early onset
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المصدر: COMAD/CODS
مصطلحات موضوعية: Set (abstract data type), Annotation, Computer science, Process (engineering), Semantic Intelligence, Computational biology, Linked data, Exome, Genome, DNA sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bfff432d0147f3c3a90f964dee8415dc
https://doi.org/10.1145/3430984.3430990 -
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المؤلفون: Ashwani Tandon, Ashwin Dalal, Shagun Aggarwal, Aneek Das Bhowmik
المصدر: Journal of Obstetrics and Gynaecology Research. 44:2181-2185
مصطلحات موضوعية: 0301 basic medicine, Fetus, Pregnancy, Pathology, medicine.medical_specialty, business.industry, Intron, Obstetrics and Gynecology, Autopsy, Prenatal diagnosis, Oligohydramnios, Consanguinity, medicine.disease, 03 medical and health sciences, 030104 developmental biology, medicine, business, Exome sequencing
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المؤلفون: Ashwani Tandon, Aneek Das Bhowmik, Ashwin Dalal, Shagun Aggarwal
المصدر: European Journal of Medical Genetics. 61:399-402
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Marfan syndrome, Heterozygote, Contracture, Fibrillin-2, Fibrillin-1, Joint Dislocations, Scoliosis, 030105 genetics & heredity, Biology, Double heterozygote, 03 medical and health sciences, Fetus, Genotype, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Connective Tissue Diseases, Genetics (clinical), Exome sequencing, Arthrogryposis, Arthrogryposis multiplex congenita, Sequence Analysis, DNA, General Medicine, medicine.disease, Phenotype, Arachnodactyly, 030104 developmental biology