المؤلفون: S. Hande ÇAĞLAYAN

المصدر: Archives of Epilepsy, Vol 24, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: epm2a ve nhlrc1 gen mutasyonlar, genotip-fenotip ilişkisi, lafora progresif miyoklonus epilepsi, ld patojenezi, Neurology. Diseases of the nervous system, RC346-429, Medicine

وصف الملف: electronic resource

العلاقة: http://archepilepsy.org/archives/archive-detail/article-preview/lafora-disease-molecular-etiology/54944Test; https://doaj.org/toc/2792-0550Test

الوصول الحر: https://doaj.org/article/fbb3803ddff24942ad495cff48ee38caTest

المؤلفون: Costin Leu, Janine Altmüller, Melek Aslı Kayserili, Aslı Gündoğdu Eken, Holger Thiele, S. Hande Çağlayan, Thomas Sander, Uluç Yiş, Sunay Usluer, Peter Nürnberg

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 21(5)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Biology, Bioinformatics, Frameshift mutation, 03 medical and health sciences, Exon, Young Adult, 0302 clinical medicine, Genetic linkage, Seizures, medicine, Humans, Child, Exome sequencing, Genetics, Benign familial infantile epilepsy, Alternative splicing, Infant, General Medicine, Middle Aged, Voltage-Gated Sodium Channel beta-1 Subunit, medicine.disease, Epilepsy, Benign Neonatal, Pedigree, 030104 developmental biology, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, RNA splicing, Chromosomal region, Mutation, Female, Neurology (clinical), Epileptic Syndromes, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34bc71bb5a5ac4e941b53b966c5cbf90Test
https://pubmed.ncbi.nlm.nih.gov/28566192Test

المؤلفون: Ergül, Berber, Kaan, Kavaklı, Nejat, Akar, Eren, Berber, S Hande, Çağlayan

المصدر: Turkish journal of haematology : official journal of Turkish Society of Haematology. 20(4)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::722acc77b2489c6ff915ea8ac1e839deTest
https://pubmed.ncbi.nlm.nih.gov/27263518Test

المؤلفون: Dilsad Turkdogan, Bülent Kara, Aslı Gündoğdu Eken, Seda Salar, Betül Baykan, Uluç Yiş, Mutluay Arslan, Sunay Usluer, Cihan Meral, S. Hande Çağlayan, Nerses Bebek, Özlem Yalçın Çapan, Pinar Tekturk

المساهمون: Usluer, Sunay, Salar, Seda, Arslan, Mutluay, Yis, Uluc, Kara, Bulent, Tekturk, Pinar, Baykan, Betul, Meral, Cihan, Turkdogan, Dilsad, Bebek, Nerses, Capan, Ozlem Yalcin, Eken, Asli Gundogdu, Caglayan, S. Hande

المصدر: Seizure. 39

مصطلحات موضوعية: GEFS+, 0301 basic medicine, Male, Turkey, DNA Mutational Analysis, GEFS, FEBRILE SEIZURES PLUS, GENERALIZED EPILEPSY, Epilepsies, Myoclonic, Biology, SUDDEN UNEXPECTED DEATH, Epileptic Encephalopathy, Seizures, Febrile, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Dravet syndrome, SCN1A Mutation, medicine, Missense mutation, Humans, Gene, Genetics, Sanger sequencing, SPECTRUM, Massive parallel sequencing, Epilepsy, SEVERE MYOCLONIC EPILEPSY, Dravet Syndrome, Point mutation, Infant, Newborn, Infant, General Medicine, medicine.disease, Phenotype, PREVALENCE, GENOTYPE, NAV1.1 Voltage-Gated Sodium Channel, 030104 developmental biology, Neurology, Child, Preschool, symbols, Epilepsy, Generalized, Female, Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66db85011de0ab9819cdc22613ef9818Test
https://pubmed.ncbi.nlm.nih.gov/27236449Test

المؤلفون: S. Hande Çağlayan, Kaan Kavakli, Osman El-Maarri

المصدر: Haemophilia. 5:169-173

مصطلحات موضوعية: Genetics, Turkish population, Haemophilia A, Haplotype, Intron, Inversion (meteorology), Hematology, General Medicine, Biology, HindIII, medicine.disease, medicine, biology.protein, Allele, Genetics (clinical), Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ac7fb78ecc10a4cc71f1392decc46354Test
https://doi.org/10.1046/j.1365-2516.1999.00307.xTest

المؤلفون: Ergül Berber, Mehmet Akin, Özlem Yalçın Çapan, S. Hande Çağlayan, Funda Pehlevan, Kaan Kavakli

المصدر: Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis. 19(5)

مصطلحات موضوعية: Male, Turkish population, congenital, hereditary, and neonatal diseases and abnormalities, Turkey, Haploview, Pseudogene, Molecular Sequence Data, Polymorphism, Single Nucleotide, Exon, VWF Haplotype, VWF Gene Conversion, hemic and lymphatic diseases, von Willebrand Factor, Von Willebrand disease, medicine, VWF, Humans, Gene conversion, Gene, VWD, Genetics, Base Sequence, business.industry, Haplotype, Hematology, General Medicine, Exons, medicine.disease, VWF Exon 28, Pedigree, von Willebrand Diseases, Haplotypes, Female, business, circulatory and respiratory physiology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7833c0a3c43b4059156d765a1075569Test
https://pubmed.ncbi.nlm.nih.gov/22473027Test

المؤلفون: Asli Gundogdu, Ahmet Gökçay, Naz Yeni, Seda Salar, Aysegul Gunduz, S. Hande Çağlayan, Ayşe Güler, Sibel Velioglu

المصدر: Epilepsy research. 98(2-3)

مصطلحات موضوعية: Adult, Male, Adolescent, Turkey, Ubiquitin-Protein Ligases, DNA Mutational Analysis, EPM2A gene, Progressive myoclonus epilepsy, Lafora disease, Pathogenesis, Epilepsy, Young Adult, Medicine, Humans, Dna diagnosis, Gene, Genetics, Family Health, business.industry, Middle Aged, medicine.disease, Protein Tyrosine Phosphatases, Non-Receptor, Neurology, Lafora Disease, Mutation, Female, Neurology (clinical), business, Carrier Proteins, Laforin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8fc08d5af64bf3a84304bc58169ad0bTest
https://pubmed.ncbi.nlm.nih.gov/22047982Test

المؤلفون: S. Hande Çağlayan, Osman El-Maarri, Johannes Oldenburg

المصدر: British Journal of Haematology. 105:1120-1122

مصطلحات موضوعية: Genetics, Haplotype, Intron, Locus (genetics), Hematology, Biology, Molecular biology, law.invention, Genetic linkage, law, Genetic marker, Gene, Polymerase chain reaction, Southern blot

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3c5247fc7ad3d273de0ca7df72ef3277Test
https://doi.org/10.1046/j.1365-2141.1999.01430.xTest

المؤلفون: Ugur Ozbek, Gülten Aktuğlu, Aytemiz Gurgey, S. Hande Çağlayan, U. Venüs Onay, Kaan Kavakli, Yurdanur Kilinç, Sabri Kemahli

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Molecular Sequence Data, Biology, medicine.disease_cause, Haemophilia, Hemophilia B, Factor IX, Factor IX gene, hemic and lymphatic diseases, Haemophilia B, medicine, Humans, Point Mutation, DNA sequencing, Child, Gene, Genetics, Mutation, Base Sequence, Molecular pathology, Point mutation, Haplotype, Hematology, medicine.disease, Haplotypes, Sequence Alignment, Gene Deletion, Mutations, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b4337ffe2f3d26801a8da7e74b1065fTest
https://hdl.handle.net/20.500.12605/17617Test

المؤلفون: Markus Montag, Alexander Olek, S. Hande Çağlayan, Basak Balaban, Johannes Oldenburg, Hans van der Ven, Jörn Walter, Bulent Urman, Osman El-Maarri, Klaus Olek

المصدر: American journal of human genetics. 63(4)

مصطلحات موضوعية: Male, Mutation rate, Biology, Hemophilia A, Polymerase Chain Reaction, Germline, Achondroplasia, Sex Factors, Germ cells, Genetics, Humans, Point Mutation, Receptor, Fibroblast Growth Factor, Type 3, Genetics(clinical), Cloning, Molecular, Gene, Genetics (clinical), Ovum, Factor VIII, Point mutation, Methylation, Sequence Analysis, DNA, DNA Methylation, Protein-Tyrosine Kinases, Mehtylation, Molecular biology, Biological Evolution, Receptors, Fibroblast Growth Factor, Spermatozoa, FGFR3 gene, Bisulfite, CpG site, DNA methylation, CpG Islands, Female, CpG dinucleotides, Sex ratio, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d30d30bb98d628b9a0fe0a9a85df2e61Test
https://pubmed.ncbi.nlm.nih.gov/9758623Test