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1. Full Text Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair
by Dal, Gülşah M and Ergüner, Bekir and Sağıroğlu, Mahmut S and Yüksel, Bayram and Onat, Onur Emre and Alkan, Can and Özçelik, Tayfun
Journal of Medical Genetics, ISSN 0022-2593, 07/2014, Volume 51, Issue 7, pp. 455 - 459
Background Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82–1.70×10−8 mutations per base per generation. However,... 
Developmental | RATES | Early post-zygotic | PRIMER DESIGN | GENETICS & HEREDITY | Genetics | Mosaicism | Mutation rate | GENOME | PROGRAM | Twins, Monozygotic - genetics | Gene Frequency | Humans | Adult | Male | Mutation Rate | Polymorphism, Single Nucleotide | Mutation | Sequence Analysis, DNA | Zygotes | Genetic aspects | Research | Gene mutations | Twins | Index Medicus
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2. Full Text The DNA methylation landscape of glioblastoma disease progression shows extensive heterogeneity in time and space
by Klughammer, Johanna and Kiesel, Barbara and Roetzer, Thomas and Fortelny, Nikolaus and Nemc, Amelie and Nenning, Karl-Heinz and Furtner, Julia and Sheffield, Nathan C and Datlinger, Paul and Peter, Nadine and Nowosielski, Martha and Augustin, Marco and Mischkulnig, Mario and Ströbel, Thomas and Alpar, Donat and Ergüner, Bekir and Senekowitsch, Martin and Moser, Patrizia and Freyschlag, Christian F and Kerschbaumer, Johannes and Thomé, Claudius and Grams, Astrid E and Stockhammer, Günther and Kitzwoegerer, Melitta and Oberndorfer, Stefan and Marhold, Franz and Weis, Serge and Trenkler, Johannes and Buchroithner, Johanna and Pichler, Josef and Haybaeck, Johannes and Krassnig, Stefanie and Mahdy Ali, Kariem and von Campe, Gord and Payer, Franz and Sherif, Camillo and Preiser, Julius and Hauser, Thomas and Winkler, Peter A and Kleindienst, Waltraud and Würtz, Franz and Brandner-Kokalj, Tanisa and Stultschnig, Martin and Schweiger, Stefan and Dieckmann, Karin and Preusser, Matthias and Langs, Georg and Baumann, Bernhard and Knosp, Engelbert and Widhalm, Georg and Marosi, Christine and Hainfellner, Johannes A and Woehrer, Adelheid and Bock, Christoph
Nature Medicine, ISSN 1078-8956, 10/2018, Volume 24, Issue 10, pp. 1611 - 1624
Glioblastoma is characterized by widespread genetic and transcriptional heterogeneity, yet little is known about the role of the epigenome in glioblastoma... 
MEDICINE, RESEARCH & EXPERIMENTAL | READ ALIGNMENT | INTRATUMORAL HETEROGENEITY | NEWLY-DIAGNOSED GLIOBLASTOMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | MGMT PROMOTER METHYLATION | CLONAL EVOLUTION | CANCER | GENOME | CELL BIOLOGY | IMAGE-ANALYSIS | CENTRAL-NERVOUS-SYSTEM | BURROWS-WHEELER TRANSFORM | Usage | Care and treatment | Development and progression | Genetic aspects | Genetic transcription | Research | Nucleotide sequencing | Methylation | Glioblastoma multiforme | Risk factors | DNA sequencing | Bisulfite | Transcription | Glioblastoma | Feasibility studies | Genomes | Heterogeneity | Maps | DNA methylation | Epigenetics | Radiology | Feasibility | Gene mapping | Deoxyribonucleic acid--DNA | Cancer | Tumors | integrative data analysis | transcriptional subtypes | bioinformatics | epigenetic heterogeneity | disease progression | tumor microenvironment | medical epigenomics
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3. Full Text Performance comparison of Next Generation sequencing platforms
by Erguner, Bekir and Ustek, Duran and Sagiroglu, Mahmut S
2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC), ISSN 1094-687X, 08/2015, Volume 2015-, pp. 6453 - 6456
Next Generation DNA Sequencing technologies offer ultra high sequencing throughput for very low prices. The increase in throughput and diminished costs open up... 
Sequential analysis | Accuracy | Genomics | DNA | Throughput | Bioinformatics | Next generation networking | Chromosomes, Artificial, Bacterial - genetics | Mutagenesis, Insertional | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA | Base Sequence | Gene Deletion | Medicine | Platforms | Conferences | Performance assessment | Torrents | Biology | Sequencing | Gene sequencing
Conference Proceeding
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4. Full Text TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
by Alanay, Yasemin and Ergüner, Bekir and Utine, Eda and Haçarız, Orçun and Kiper, Pelin Ozlem Simsek and Taşkıran, Ekim Zihni and Perçin, Ferda and Uz, Elif and Sağıroğlu, Mahmut Şamil and Yuksel, Bayram and Boduroglu, Koray and Akarsu, Nurten Ayse
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2014, Volume 164, Issue 2, pp. 291 - 304
Cerebrofaciothoracic dysplasia (CFT) (OMIM #213980) is a multiple congenital anomaly and intellectual disability syndrome involving the cranium, face, and... 
cerebrofaciothoracic dysplasia | TMCO1‐defect | whole exome‐sequencing | TMCO1 | TMCO1-defect | Whole exome-sequencing | Cerebrofaciothoracic dysplasia | FACIO-THORACIC DYSPLASIA | GENETICS & HEREDITY | whole exome-sequencing | SEQUENCING DATA | Bone and Bones - pathology | Humans | Child, Preschool | Infant | Male | Intellectual Disability - genetics | Exome | Membrane Proteins - deficiency | DNA Mutational Analysis | Bone and Bones - diagnostic imaging | Facies | Fatal Outcome | Female | Gene Order | Abnormalities, Multiple - genetics | Gene Expression | Membrane Proteins - genetics | Chromosome Mapping | Genes, Recessive | Pregnancy | Radiography | Homozygote | Magnetic Resonance Imaging | Phenotype | Turkey | Pedigree | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Brain - pathology | Consanguinity | Pregnancy Outcome | Dysplasia | Genetic disorders | Birth
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5. Full Text Myophosphorylase ( PYGM ) mutations determined by next generation sequencing in a cohort from turkey with McArdle disease
by Inal-Gültekin, Güldal and Toptaş-Hekimoğlu, Bahar and Görmez, Zeliha and Gelişin, Özlem and Durmuş, Hacer and Ergüner, Bekir and Demirci, Hüseyin and Sağıroğlu, Mahmut Ş and Parman, Yeşim and Deymeer, Feza and Yılmaz-Aydoğan, Hülya and Pençe, Sadrettin and Bekircan-Kurt, Can Ebru and Tan, Ersin and Erdem-Özdamar, Sevim and Üstek, Duran and Giger, Urs and Öztürk, Oğuz and Serdaroğlu-Oflazer, Piraye
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 11, pp. 997 - 1008
Highlights • First report to investigate the molecular variations of McArdle disease in Turkey. • Establishment of a molecular diagnostic algorithm for... 
Neurology | Molecular screening | Glycogenosis | Population specific | Rare muscle disorders | Genomics | Novel mutation | MOLECULAR CHARACTERIZATION | DIAGNOSIS | GENETIC-ANALYSIS | MUSCULAR-DYSTROPHY | NEUROSCIENCES | DEFICIENCY | DISCOVERY | CLINICAL NEUROLOGY | FEATURES | HETEROGENEITY | POLYMORPHISMS | NONSENSE MUTATION | Glycogen Phosphorylase, Muscle Form - genetics | Humans | Middle Aged | Male | Glycogen Storage Disease Type V - genetics | Genetic Testing - methods | Young Adult | Turkey | Pedigree | Adolescent | Geography, Medical | Adult | Family | Female | Aged | Mutation | High-Throughput Nucleotide Sequencing - methods | Child | Cohort Studies | Medical research | Algorithms | Genetic research | Medicine, Experimental | Genetic aspects | Nucleotide sequencing | DNA sequencing | genomics | rare muscle disorders | glycogenosis | molecular screening | novel mutation | population specific
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6. Full Text A metagenomic study on rumen samples of domestic ruminants in Marmara Region of Turkey
by Sertdemir, Ibrahim and Özcan, Orhan and Şencan, Sevde and Saraç, Aydan and Yücetürk, Betül and Yüksel, Bayram and Ergüner, Bekir and Öztürk, Yavuz
New BIOTECHNOLOGY, ISSN 1871-6784, 07/2016, Volume 33, pp. S180 - S180
Rumen | Genetic engineering
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7. Full Text Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
by Bayrakli, Fatih and Poyrazoglu, Hatice Gamze and Yuksel, Sirin and Yakicier, Cengiz and Erguner, Bekir and Sagiroglu, Mahmut Samil and Yuceturk, Betul and Ozer, Bugra and Doganay, Selim and Tanrikulu, Bahattin and Seker, Askin and Akbulut, Fatih and Ozen, Ali and Per, Huseyin and Kumandas, Sefer and Torun, Yasemin Altuner and Bayri, Yasar and Sakar, Mustafa and Dagcinar, Adnan and Ziyal, Ibrahim
Journal of Human Genetics, ISSN 1434-5161, 12/2015, Volume 60, Issue 12, pp. 763 - 768
We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one... 
SEQUENCING DATA | DROSOPHILA | GENETICS & HEREDITY | Sequence Deletion | Microtubule-Associated Proteins - genetics | Quantitative Trait, Heritable | Codon, Terminator - genetics | Exons | Humans | Genetic Diseases, Inborn - genetics | Paraplegia - genetics | Male | Genes, Recessive | Exome | Base Sequence | Female
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8. GPR56 homozygous nonsense mutation p.R271 Associated with phenotypic variability in bilateral frontoparietal polymicrogyria
by Öncü-öner, Tülay and Ünalp, Aycan and Porsuk-Doru, İlknur and Ağılkaya, Sinem and Güleryüz, Handan and Saraç, Aydan and Ergüner, Bekir and Yüksel, Bayram and Hız-Kurul, Semra and Cingöz, Sultan
Turkish Journal of Pediatrics, ISSN 0041-4301, 2018, Volume 60, Issue 3, pp. 229 - 237
Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S. GPR56 homozygous nonsense mutation p.R271*... 
Polymicrogyria | GPR56 mutations | BFPP | Whole exome sequencing | Brain - diagnostic imaging | Humans | Biological Variation, Population | Infant | Male | Neural Stem Cells | Codon, Nonsense | Malformations of Cortical Development - genetics | Whole Exome Sequencing - methods | Young Adult | Homozygote | Magnetic Resonance Imaging | Pedigree | Adolescent | Adult | Female | Receptors, G-Protein-Coupled - genetics | High-Throughput Nucleotide Sequencing - methods
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9. Full Text Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype
by Bayrakli, Fatih and Guclu, Bulent and Yakicier, Cengiz and Balaban, Hatice and Kartal, Ugur and Erguner, Bekir and Sagiroglu, Mahmut S and Yuksel, Sirin and Ozturk, Ahmet R and Kazanci, Burak and Ozum, Unal and Kars, Hamit Z
BMC Genetics, ISSN 1471-2156, 09/2013, Volume 14, Issue 1, pp. 95 - 95
Background: Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected... 
Vertebra | Whole genome linkage analysis | Klippel-Feil syndrome | MEOX1 | Whole-exome sequencing | GENETICS & HEREDITY | SEQUENCING DATA | FEATURES | Humans | Male | Tomography, X-Ray Computed | Transcription Factors - genetics | Lod Score | Klippel-Feil Syndrome - genetics | Spine - abnormalities | Homozygote | Phenotype | Animals | Chromosomes, Human, Pair 17 | Pedigree | Adult | Female | High-Throughput Nucleotide Sequencing | Mice | Polymorphism, Single Nucleotide | Klippel-Feil Syndrome - diagnostic imaging | Genome, Human | Genetic Linkage | Genetic research | Genetic aspects | Gene mutations | Analysis
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10. Full Text HOXC4 Gene is Possibly Responsible for Lin-Gettig Syndrome
by Tahir Atik and Esra Işık and Samim Özen and Bilçağ Akgün and Hüseyin Onay and Özgür Çoğulu and Bekir Ergüner and Sümeyra Savaş and Ferda Özkınay
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 20
Lin-Gettig syndrome, described by Lin and Gettig in 1990, is a very rare autosomal recessive disease. The syndrome is characterized by craniosynostosis, severe... 
Intellectual disabilities | Mutation
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11. Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy
by Sahin, Yavuz and Güngör, Olcay and Gormez, Zeliha and Demirci, Huseyin and Ergüner, Bekir and Güngör, Gülay and Dilber, Cengiz
Acta neurologica Belgica, 03/2017, Volume 117, Issue 1, p. 159
Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance,... 
Membrane Proteins - genetics | Humans | Male | Young Adult | Homozygote | Exome - genetics | Neuronal Ceroid-Lipofuscinoses - genetics | Turkey | DNA Mutational Analysis | Pedigree | Adolescent | Adult | Mutation
Journal Article
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12. Full Text Draft genome sequences of two heat-resistant mutant strains (A52 and B41) of the photosynthetic hydrogen-producing bacterium Rhodobacter capsulatus
by Gokce, Abdulmecit and Cakar, Zeynep Petek and Yucel, Meral and Ozcan, Orhan and Sencan, Sevde and Sertdemir, Ibrahim and Erguner, Bekir and Yuceturk, Betul and Sarac, Aydan and Yuksel, Bayram and Ozturk, Yavuz
Genome Announcements, ISSN 2169-8287, 2016, Volume 4, Issue 3
The draft genome sequences of two heat-resistant mutant strains, A52 and B41, derived from Rhodobacter capsulatus DSM 1710, and with different hydrogen... 
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13. Full Text Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy
by Sahin, Yavuz and Sahin, Yavuz and Güngör, Olcay and Güngör, Olcay and Gormez, Zeliha and Gormez, Zeliha and Demirci, Huseyin and Demirci, Huseyin and Ergüner, Bekir and Ergüner, Bekir and Güngör, Gülay and Güngör, Gülay and Dilber, Cengiz and Dilber, Cengiz
Acta Neurologica Belgica, ISSN 0300-9009, 3/2017, Volume 117, Issue 1, pp. 159 - 167
Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance,... 
Neurology | Neurosciences | Biomedicine | NCL | Northern epilepsy | Neuronal ceroid lipofuscinosis | CLN8 | Medicine/Public Health, general | Neuroradiology | VARIANT | CHILDHOOD | NEUROSCIENCES | PROGRAM | CLINICAL NEUROLOGY | NEURONAL CEROID-LIPOFUSCINOSIS | FEATURES
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14. Full Text HOXC4 Gene is Possibly Responsible for Lin-Gettig Syndrome
by Atik, Tahir and Isik, Esra and Ozen, Samim and Akgun, Bilcag and Onay, Huseyin and Cogulu, Ozgur and Erguner, Bekir and Savas, Sumeyra and Ozkinay, Ferda
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 2, p. 20
Case studies | Usage | Gene mutations | Exome sequencing | Genetic aspects | Research | Children | Diagnosis | Diseases
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15. Full Text A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
by Mutlu, Mehmet Burak and Cetinkaya, Arda and Koc, Nermin and Ceylaner, Gulay and Erguner, Bekir and Aydın, Hatip and Karaman, Selin and Demirci, Oya and Goksu, Kamber and Karaman, Ali
European Journal of Medical Genetics, ISSN 1769-7212, 2016, Volume 59, Issue 11, pp. 604 - 606
Abstract Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs,... 
Medical Education | WNT7A | Al-Awadi-Raas-Rothschild syndrome | Fetal ultrasonography | Missense mutation | Skeletal dysplasia | AARRS | CLINICAL-FEATURES | HYPOPLASIA/APLASIA | PHOCOMELIA-SYNDROME | FUHRMANN-SYNDROME | GENETICS & HEREDITY | SCHINZEL PHOCOMELIA | MOLECULAR-BASIS | Amenorrhea - physiopathology | Polydactyly - genetics | Polydactyly - physiopathology | Humans | Uterus - abnormalities | Amenorrhea - genetics | Pelvic Bones - physiopathology | Fetus - physiopathology | Mutation, Missense | Synostosis - genetics | Pregnancy | Wnt Proteins - genetics | Ectromelia - physiopathology | Synostosis - physiopathology | Uterus - physiopathology | Ectromelia - genetics | Pelvic Bones - abnormalities | Female | Extremities - physiopathology | Medical genetics | Medical research | Dysplasia | Genetic research | Medicine, Experimental | Amino acids | Family medicine | Genetic aspects
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16. Full Text Mutation in MEOX1gene causes a recessive Klippel-Feil syndrome subtype
by Bayrakli, Fatih and Guclu, Bulent and Yakicier, Cengiz and Balaban, Hatice and Kartal, Ugur and Erguner, Bekir and Sagiroglu, Mahmut Samil and Yuksel, Sirin and Ozturk, Ahmet Rasit and Kazanci, Burak and Ozum, Unal and Kars, Hamit Zafer
BMC Genetics, ISSN 1471-2156, 09/2013, Volume 14, Issue 1
Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals... 
Genetic aspects | Genomes | Gene mutations | Scoliosis | Marriage | Genomics | Genetic research | Klippel-Feil syndrome
Journal Article
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17. Full Text Characterizing common substructures of ligands for GPCR protein subfamilies
by Erguner, Bekir and Hattori, Masahiro and Goto, Susumu and Kanehisa, Minoru
Genome informatics. International Conference on Genome Informatics, ISSN 0919-9454, 2010, Volume 24, pp. 31 - 41
The G-protein coupled receptor (GPCR) superfamily is the largest class of proteins with therapeutic value. More than 40% of present prescription drugs are GPCR... 
Computational Biology - methods | Humans | Models, Molecular | Rats | Drug Discovery - methods | Algorithms | Animals | Databases, Protein | Protein Binding | Ligands | Protein Conformation | Mice | Binding Sites | Receptors, G-Protein-Coupled - chemistry | Cluster Analysis
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18. Full Text Prediction and classification for GPCR sequences based on ligand specific features
by Ergüner, Bekir and Erdogan, Özgün and Sezerman, Ugur
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), ISSN 0302-9743, 2006, Volume 4263, pp. 174 - 181
GPCR sequence | G-Protein Coupled Receptors (GPCRs) | Ligand specificity
Conference Proceeding
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19. Full Text Improving genome assemblies using multi-platform sequence data
by Kavak, Pınar and Ergüner, Bekir and Üstek, Duran and Yüksel, Bayram and Saǧıroǧlu, Mahmut Şamil and Güngör, Tunga and Alkan, Can
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), ISSN 0302-9743, 2016, Volume 9874, pp. 220 - 232
Next generation multi-platform sequencing | Assembly improvement | de novo assembly
Conference Proceeding
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20. Human genome in a smart card
by Akgün, Mete and Ergüner, Bekir and Bayrak, A. Osman and Saǧiroǧlu, M. Şamil
HEALTHINF 2014 - 7th International Conference on Health Informatics, Proceedings; Part of 7th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC 2014, 2014, pp. 310 - 316
Human genome | Smart card | Disease risk test
Conference Proceeding
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