المؤلفون: Hatip Aydin, Resul Arisoy, Ali Karaman, Arda Çetinkaya, Emre Erdoğdu, Oya Demirci, Mehmet Burak Mutlu

المصدر: Namık Kemal Tıp Dergisi, Vol 3, Iss 3, Pp 112-116 (2015)

مصطلحات موضوعية: anencephaly, folate, vitamin b12, factor v leiden (fvl), factor ii (fii) g20210a, mthfr c667t, mthfr a1298c, Medicine

وصف الملف: electronic resource

Relation: http://namikkemalmedj.com/archives/archive-detail/article-preview/significance-of-maternal-serum-folate-and-vitamin-/40459; https://doaj.org/toc/2587-0262

URL الوصول: https://doaj.org/article/286e2da0725d457ab1b306417b92f7d2

المؤلفون: Dilek Dogruer, Ebru Kaplan, Esra Tug, Hatip Aydin

المصدر: Internal Medicine. 2011, 50(1):17

المؤلفون: Sevcan Tug Bozdogan, Ahmet C. Ceylan, Alper Gezdirici, Sukru Candan, Harsha Doddapaneni, Daniel G. Calame, Muhsin Elmas, Özlem Sezer, Shalini N. Jhangiani, Osman Yeşilbaş, Davut Gul, Sinem Yalcintepe, Nursel Elcioglu, Akif Ayaz, Jennifer E. Posey, Ozge Ozalp, Haowei Du, Yavuz Bayram, Betül Kılıç, Moez Dawood, Hatip Aydin, Serdal Güngör, Angad Jolly, Ender Karaca, Haktan Bağış Erdem, Vehap Topcu, Christopher M. Grochowski, Sedat Işıkay, Elif Yilmaz Gulec, Richard A. Gibbs, Ruizhi Duan, Emine Demiral, Donna M. Muzny, Jianhong Hu, Jaya Punetha, Tadahiro Mitani, Tulay Tos, Davut Pehlivan, Huseyin Aslan, Jawid M Fatih, Isabella Herman, Gozde Yesil, Salih Cicek, Zeynep Coban Akdemir, Bilgen Bilge Geçkinli, James R. Lupski, Claudia M.B. Carvalho, Gulsen Akay, Dana Marafi

المصدر: Am J Hum Genet

مصطلحات موضوعية: Adult, Male, Turkish population, Adolescent, Turkey, Alu-Alu Mediated Rearrangement (AAMR), Identity-By-Descent (IBD), Genomics, Runs of Homozygosity, Biology, Article, Cohort Studies, Young Adult, Exome Reanalysis, Exome Sequencing, Prevalence, Genetics, Humans, Child, Genetics (clinical), Exome sequencing, Whole genome sequencing, Multilocus Pathogenic Variation, Genetic heterogeneity, Haplotype, Infant, Newborn, Infant, Middle Aged, Runs of Homozygosity (ROH), Pedigree, Phenotype, Neurodevelopmental Disorders, Child, Preschool, Mutation, Whole-Genome Sequencing, Etiology, Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::286494a6f075e75375bf1f2e63bb3558
https://doi.org/10.1016/j.ajhg.2021.08.009

المؤلفون: Ümeyye Taka Aydın, Hatip Aydın, Osman Çekiç

المصدر: Türk Oftalmoloji Dergisi, Vol 44, Iss 3, Pp 223-227 (2014)

مصطلحات موضوعية: Antioxidant, oxidative stress, retinopathy of prematurity, reactive oxygen species, Medicine, Ophthalmology, RE1-994

Relation: http://www.oftalmoloji.org/article_6097/Oxidative-Stress-And-Retinopathy-Of-Prematurity; https://doaj.org/toc/1300-0659; https://doaj.org/toc/2147-2661; https://doaj.org/article/e13c2f0115454660aabaaf8068dacf67

الاتاحة: https://doi.org/10.4274/tjo.33254
https://doaj.org/article/e13c2f0115454660aabaaf8068dacf67

المؤلفون: Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson

المساهمون: Dyment, David A., O'Donnell-Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping-Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, de Boer, Elke, de Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, Lopez-Giraldez, Francesc, Matise, Tara C., McEvoy-Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Ounap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil

المصدر: Am J Med Genet A

مصطلحات موضوعية: 0301 basic medicine, Male, ANOMALIES, INTELLECTUAL DISABILITY, Eczema, 030105 genetics & heredity, PHENOTYPE, genetic heterogeneity, Locus heterogeneity, Dubowitz syndrome, Exome, Child, Genetics (clinical), Exome sequencing, Growth Disorders, Genetics, FRAMESHIFT, Genomics, 3. Good health, VPS13B, genome sequencing, LOSS-OF-FUNCTION, Child, Preschool, symbols, Microcephaly, Female, microarray, Adolescent, DNA Copy Number Variations, Biology, NSUN2, PATIENT, DNA sequencing, Histone Deacetylases, Article, 03 medical and health sciences, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, ANEMIA, Genetic heterogeneity, Genome, Human, MUTATIONS, Facies, Infant, PLATFORM, medicine.disease, Repressor Proteins, 030104 developmental biology, Mendelian inheritance, exome sequencing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59d
https://hdl.handle.net/11424/243257

المؤلفون: Priya S. Shah, Nevan J. Krogan, Nichole Link, Burak Tepe, Beyhan Tüysüz, Hugo J. Bellen, Bilgen Bilge Geçkinli, James R. Lupski, Ganesh H. Mochida, Marjorie Withers, Ajay X. Thomas, Hatip Aydin, Ghayda M. Mirzaa, Benjamin R. Arenkiel, Angad Jolly, Robin D. Clark, Sedat Isikay, Tulay Tos, Hyunglok Chung

المساهمون: HKÜ, Sağlık Bilimleri Fakültesi, Fizyoterapi ve Rehabilitasyon Bölümü

المصدر: Developmental cell, vol 51, iss 6
Dev Cell

مصطلحات موضوعية: Microcephaly, brain development, Medical and Health Sciences, aPKC, 0302 clinical medicine, Neural Stem Cells, L(2)gl, Bazooka, Asymmetric cell division, Neurons, Pediatric, 0303 health sciences, Kinase, Nuclear Proteins, Cell Polarity, Biological Sciences, Phenotype, Neural stem cell, Cell biology, Drosophila melanogaster, Neurological, Phosphorylation, Cell Division, Miranda, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Ballchen, Rare Diseases, Neuroblast, medicine, Genetics, Animals, Humans, Molecular Biology, 030304 developmental biology, Endoplasmic reticulum, Asymmetric Cell Division, Membrane Proteins, Cell Biology, Zika Virus, medicine.disease, Stem Cell Research, NS4A, MCPH16, congenital infection, VRK1, Good Health and Well Being, Mutation, Congenital Structural Anomalies, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290993b760c987f9d60253c21c0672fe
https://escholarship.org/uc/item/4np6183x

المؤلفون: Aysel Kalayci Yiğin, Mehmet Seven, Filiz Özdemir, Hatip Aydin

المصدر: Volume: 1, Issue: 1 26-30
Phoenix Medical Journal

مصطلحات موضوعية: Candidate gene, medicine.medical_specialty, İskelet Displazisi,Array-CGH,Mikroarray Dizaynı, Microarray, business.industry, medicine.disease, Bioinformatics, Skeletal Dysplasia,Array-CGH,Design of Microarray, Genetik ve Kalıtım, Dysplasia, medicine, Etiology, Medical genetics, In patient, business, Genetics and Heredity

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4769780f69bacee771a37c99be9192c
https://dergipark.org.tr/tr/pub/phnx/issue/48371/634255

المؤلفون: Sabine Lüttgen, Christina Evers, Hatip Aydin, Anne-Karin Kahlert, Kerstin Kutsche, Stephan Unkelbach, Stephanie Spranger, María Juliana Ballesta-Martínez, Angela Ovens-Raeder, Bernhard Zabel, Florian von Deimling, Alena Puchmajerová, Andreas Hahn, Vanesa López-González, Robin Satanovskij, Karim Kouz, Christina Lissewski, Sheela Nampoothiri, Maja Hempel, Angelika Riess, Diana Mitter, Pablo Villavicencio-Lorini, Adrian Lieb, Ulrike Issa, Martin Zenker, Heide Seidel

المصدر: Genetics in Medicine. 18:1226-1234

مصطلحات موضوعية: Male, 0301 basic medicine, congenital heart malformation, genetic association, genotype phenotype correlation, RIT1 gene, lymphatic system disease, Bioinformatics, preschool child, Genotype-phenotype distinction, genetic variability, middle aged, Genotype, Noonan syndrome, Missense mutation, genetics, gene mutation, Genetics (clinical), child, clinical article, medicine.diagnostic_test, adult, pedigree, RIT1 protein, human, female, germline mutation, genetic association study, medicine.symptom, Ras protein, Heart Defects, Congenital, phenotype, oncogenic mutations, RASopathy, Short stature, Article, 03 medical and health sciences, Germline mutation, medicine, Humans, human, gene, RASopathies, Genetic Association Studies, Germ-Line Mutation, Genetic testing, business.industry, missense mutation, Cardiomyopathy, Hypertrophic, hypertrophic cardiomyopathy, school child, medicine.disease, infant, clinical feature, 030104 developmental biology, adolescent, RAS-MAPK signaling pathway, ras Proteins, pathology, codon, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c81685a1a6eb9cbba8314a634d9be5
https://doi.org/10.1038/gim.2016.32

المؤلفون: Ekkehard Wilichowski, Richard A. Gibbs, Fernando Kok, Gholson J. Lyon, Gerarda Cappuccio, René Santer, Ignatia B. Van den Veyver, Friedhelm Hildebrandt, Christopher M. Grochowski, Janson White, Nicola Brunetti-Pierri, Dilek Aktas, Ender Karaca, Joao Paulo Kitajima, Reid J. Robison, Sevcan Tug Bozdogan, V. Reid Sutton, Kai Wang, Davor Lessel, Michael J. Bamshad, Shalini N. Jhangiani, Michael O. Dorschner, Ian A. Glass, Donna M. Muzny, Mehmet Alikasifoglu, Robert Kleyner, Margaret Yoon, Jessika Johannsen, Hadas Ityel, James R. Lupski, Tatjana Bierhals, Hatip Aydin, Lucia Ortega, Hilde Van Esch, Bibiana K Y Wong, Ingrid S. Paine, Adriano Magli, Mir Reza Bekheirnia, Ariel Brautbar, Maja Hempel, Wai Lan Yeung, Zeynep Coban Akdemir, Saskia B. Wortmann, Taylor Marmorale, Jennifer E. Posey, Yavuz Bayram, Fabíola Paoli Monteiro, Michele Pinelli, Sarah Rosenheck, Erasmo Barbante Casella, Joannie Hui

المساهمون: Paine, I., Posey, J. E., Grochowski, C. M., Jhangiani, S. N., Rosenheck, S., Kleyner, R., Marmorale, T., Yoon, M., Wang, K., Robison, R., Cappuccio, G., Pinelli, M., Magli, A., Coban Akdemir, Z., Hui, J., Yeung, W. L., Wong, B. K. Y., ORTEGA DE LUNA, Ernesto, Bekheirnia, M. R., Bierhals, T., Hempel, M., Johannsen, J., Santer, R., Aktas, D., Alikasifoglu, M., Bozdogan, S., Aydin, H., Karaca, E., Bayram, Y., Ityel, H., Dorschner, M., White, J. J., Wilichowski, E., Wortmann, S. B., Casella, E. B., Kitajima, J. P., Kok, F., Monteiro, F., Muzny, D. M., Bamshad, M., Gibbs, R. A., Sutton, V. R., Van Esch, H., Brunetti-Pierri, N., Hildebrandt, F., Brautbar, A., Van den Veyver, I. B., Glass, I., Lessel, D., Lyon, G. J., Lupski, J. R., Çukurova Üniversitesi

المصدر: Am. J. Hum. Genet. 105, 302-316 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Identification, Mutation, Missense, Common-Cause, Paralogous Gene, Biology, Article, DEAD-box RNA Helicases, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Genetics, human paralog, Nmd, Missense mutation, Humans, Gene, Genetics (clinical), Exome sequencing, Genetic Association Studies, Protein, Mutants, Variants, Infant, Newborn, Helicase, Infant, developmental delay, DExD/H-box RNA helicase family, human paralogs, intellectual disability, Phenotype, RNA Helicase A, De-Novo, 3. Good health, Neoplasm Proteins, Pedigree, 030104 developmental biology, Neurodevelopmental Disorders, biology.protein, Developmental Delay, Dexd/h-box Rna Helicase Family, Human Paralogs, Female, DDX3X, Mutations, 030217 neurology & neurosurgery, RNA Helicases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79830e5d7e959e087b30e0ad8291916b
http://hdl.handle.net/11588/757969

المؤلفون: Nermin Koc, Oya Demirci, Arda Çetinkaya, Selin Karaman, Gulay Ceylaner, Ali Karaman, Kamber Goksu, Bekir Ergüner, Mehmet Burak Mutlu, Hatip Aydin

المصدر: European Journal of Medical Genetics. 59:604-606

مصطلحات موضوعية: 0301 basic medicine, Al-Awadi-Raas-Rothschild Syndrome, Fetus, education, Uterus, General Medicine, Anatomy, 030105 genetics & heredity, Oligodactyly, Biology, medicine.disease, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, WNT7A, Genetics, medicine, Missense mutation, Fibula, Genetics (clinical), Pelvis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9df25a93c5d316f86964524b9819ed9c
https://doi.org/10.1016/j.ejmg.2016.09.009

المؤلفون: Emre Erdogdu, Pınar Kumru, Resul Arisoy, Semih Tugrul, Mehmet Aytac Yuksel, Hatip Aydin, Oya Pekin, Oya Demirci

المصدر: The Journal of Maternal-Fetal & Neonatal Medicine. 29:466-472

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Genetic counseling, Prenatal diagnosis, Ultrasonography, Prenatal, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Lymphangioma, Humans, Medicine, 030212 general & internal medicine, Retrospective Studies, Chromosome Aberrations, Fetus, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Ultrasound, Obstetrics and Gynecology, Gestational age, medicine.disease, body regions, Fetal Diseases, Pediatrics, Perinatology and Child Health, Female, business, Case series

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa6f78a9786ec44d3f7a36a051cd1d24
https://doi.org/10.3109/14767058.2015.1004536

المؤلفون: Ali Karaman, Ümeyye Taka Aydin, Mehmet Burak Mutlu, Hatip Aydin, Arda Çetinkaya

المصدر: Zeynep Kamil Tıp Bülteni. 48

مصطلحات موضوعية: Moderate to severe, Pediatrics, medicine.medical_specialty, business.industry, Genetic disorder, medicine.disease, Short stature, body regions, Late diagnosis, Obstetrics and Gynaecology, Intellectual disability, medicine, Surgery, Pediatrics, Perinatology, and Child Health, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::97c6429c1c87820a00913d2c56c01646
https://doi.org/10.16948/zktipb.272969

المؤلفون: B Devranoglu, Soylemez, Gozde Yesil, Ali Karaman, Hatip Aydin, Ceyhan Sayar, Güven Toksoy, Bilge Geckinli

المصدر: European Journal of Obstetrics & Gynecology and Reproductive Biology. 182:211-215

مصطلحات موضوعية: Adult, medicine.medical_specialty, Turkey, Karyotype, Chromosomal translocation, Primary Ovarian Insufficiency, Y chromosome, Premature ovarian insufficiency, Translocation, Genetic, Young Adult, medicine, Humans, Primary amenorrhea, Amenorrhea, Sex Chromosome Aberrations, X chromosome, Retrospective Studies, Gonadal Dysgenesis, 46,XY, Gynecology, Chromosomes, Human, X, Mosaicism, business.industry, Obstetrics and Gynecology, Retrospective cohort study, Sex reversal, Aneuploidy, Reproductive Medicine, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c9a3579d80616ff7f6c9914533f9ca6
https://doi.org/10.1016/j.ejogrb.2014.09.033

المؤلفون: Christine R. Beck, Shalini N. Jhangiani, Hatip Aydin, Bilge Geckinli, Davut Pehlivan, Richard A. Gibbs, Ender Karaca, James R. Lupski, Ali Karaman, Tomasz Gambin, Donna M. Muzny

المصدر: European Journal of Human Genetics. 22:1145-1148

مصطلحات موضوعية: Male, medicine.medical_specialty, Short Report, Biology, medicine.disease_cause, Bioinformatics, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Protein Isoforms, Abnormalities, Multiple, Exome, MULTIPLE MALFORMATIONS, Genetics (clinical), Exome sequencing, Mutation, Infant, Membrane Proteins, medicine.disease, Cerebro-facio-thoracic dysplasia, Dysplasia, Medical genetics, Calcium Channels

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f4ebc9412126652940524a24e7ccb18
https://doi.org/10.1038/ejhg.2013.291

المؤلفون: Asuman Koparir, Mustafa Ozen, Omer Faruk Karatas, Heyko Skladny, Hatip Aydin, Erkan Koparir, Elif Fenercioglu, Gülgün S. Güven, Alper Gezdirici, Mehmet Seven, Hakan Ulucan

المصدر: Clinical Dysmorphology. 23:1-7

مصطلحات موضوعية: Microcephaly, Pediatrics, medicine.medical_specialty, Developmental Disabilities, Dwarfism, Osteochondrodysplasias, Short stature, Pathology and Forensic Medicine, Frameshift mutation, Pathognomonic, Intellectual Disability, medicine, Humans, Child, Frameshift Mutation, Genetics (clinical), Spondyloepimetaphyseal dysplasia, business.industry, Intracellular Signaling Peptides and Proteins, Infant, Proteins, Genetic Diseases, X-Linked, General Medicine, medicine.disease, Codon, Nonsense, Dysplasia, Child, Preschool, Pediatrics, Perinatology and Child Health, Chromosomal region, Mutation (genetic algorithm), Female, Anatomy, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8bdef6338a92910b27756ced60fddab
https://doi.org/10.1097/mcd.0000000000000020

المؤلفون: Murat Gunay, Betul Onal Gunay, Ümeyye Taka Aydin, Hatip Aydin, Ali Karaman, Gokhan Celik

المصدر: Ophthalmic genetics. 37(4)

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Genotyping Techniques, Turkey, Birth weight, Gestational Age, 030204 cardiovascular system & hematology, Gene mutation, Thrombophilia, Real-Time Polymerase Chain Reaction, Gastroenterology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Risk Factors, Internal medicine, medicine, Factor V Leiden, Prevalence, Birth Weight, Humans, Genetic Predisposition to Disease, Retinopathy of Prematurity, Allele frequency, Genetics (clinical), Methylenetetrahydrofolate Reductase (NADPH2), biology, business.industry, Factor V, Infant, Retinopathy of prematurity, medicine.disease, digestive system diseases, Healthy Volunteers, Ophthalmology, Cross-Sectional Studies, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, biology.protein, Prothrombin G20210A, Female, Prothrombin, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e02eb9645cd18c7f4a7650fc39e1d92
https://pubmed.ncbi.nlm.nih.gov/27018927

المؤلفون: Semih Tugrul, Oya Pekin, Cuma Yorganci, Emre Erdogdu, Resul Arisoy, Hatip Aydin

المصدر: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology. 36(6)

مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Prenatal diagnosis, Abortion, Ultrasonography, Prenatal, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Cerebellar malformation, Cerebellum, Rare case, Cisterna Magna, medicine, Humans, business.industry, Obstetrics and Gynecology, Abortion, Induced, medicine.disease, Malformations of Cortical Development, Rhombencephalon, nervous system, Agenesis, Pregnancy Trimester, Second, Female, Ultrasonography, business, 030217 neurology & neurosurgery, Cerebellar Vermis, Hydrocephalus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21c1f88a7676c5a6d27f08b84fed09a3
https://pubmed.ncbi.nlm.nih.gov/27012487

المؤلفون: Alper Gezdirici, Tomasz Gambin, Donna M. Muzny, Eric Boerwinkle, Elif Yilmaz, James R. Lupski, Mehmed M. Atik, Nursel Elcioglu, Yavuz Bayram, Tamar Harel, Wu Lin Charng, Ender Karaca, Richard A. Gibbs, Timur Yildirim, Ayman W. El-Hattab, Gulsen Akay Tayfun, Tamer Celik, Ali Karaman, Zeynep Coban Akdemir, Ozge Ozalp Yuregir, Sedat Işıkay, Ilhan A. Bayhan, Davut Pehlivan, Hatip Aydin, Beyhan Tüysüz, Sevcan Tug Bozdogan, Shalini N. Jhangiani, Deniz Torun

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Turkey, Myopathy, Congenital Contractures, Genome-wide association study, Biology, Compound heterozygosity, 03 medical and health sciences, Fetal Akinesia, Genetic model, medicine, Humans, Exome, Family, Exome sequencing, Genetics, Arthrogryposis, Genetic heterogeneity, Renal Dysfunction, Diagnostic-Approach, General Medicine, Classification, 3. Good health, Distal Arthrogryposis, 030104 developmental biology, Phenotype, Pterygium Syndrome, Female, medicine.symptom, Clinical Medicine, Mutations, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567df337cdce266703b3af9d9dddf29f
https://hdl.handle.net/20.500.11776/9233

المؤلفون: Eylem Gokmeydan, Yesiltepe Mutlu Gul, Heves Kırmızıbekmez, Hatip Aydin

المصدر: Bone Abstracts.

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Osteogenesis imperfecta, Mucopolysaccharidosis, Medicine, General Medicine, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c5cfb2ffb027a56b7a0790f93956a5e7
https://doi.org/10.1530/boneabs.4.p121

المؤلفون: Ali Karaman, Tomasz Gambin, James R. Lupski, Mehmed M. Atik, Shalini N. Jhangiani, Ender Karaca, Yavuz Bayram, Hatip Aydin, Richard A. Gibbs, Zeynep Coban Akdemir, Davut Pehlivan

مصطلحات موضوعية: Male, Turkey, Hamartoma, Biology, Short stature, Joubert syndrome, Article, Retina, Cerebellar Diseases, Cerebellum, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Exome, Genetic Predisposition to Disease, Eye Abnormalities, Hypertelorism, Child, Genetics (clinical), Exome sequencing, Homozygote, Membrane Proteins, Anatomy, Kidney Diseases, Cystic, Middle Aged, Orofaciodigital Syndromes, medicine.disease, Magnetic Resonance Imaging, Cleft Palate, Ciliopathy, stomatognathic diseases, Phenotype, Mutation, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::735f6a8c0cea35edf546d127cb3a191e
https://europepmc.org/articles/PMC4545386/