المؤلفون: Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Ciliopathy, Bardet-biedl syndrome, Alström syndrome, Oral-facial-digital syndrome, Joubert syndrome, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/73060ee9b5c9490996048dfd21858c78Test

المؤلفون: Hye In Ka, Mina Cho, Seung-Hae Kwon, Se Hwan Mun, Sora Han, Min Jung Kim, Young Yang

المصدر: Cell & Bioscience, Vol 13, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Ciliopathy, Ciliogenesis, IK, Oral-facial-digital syndrome, OFD1, Biotechnology, TP248.13-248.65, Biology (General), QH301-705.5, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-3701Test

الوصول الحر: https://doaj.org/article/c2e0c25882fb487ebb44847bcb0b9d03Test

المؤلفون: Walid, Adnan, Shafayat Chowdhury, Tameem, Farhad, Tanzil, Sharmin, Effat, Das, Utpak, Sen, Showrov, Afrin, Shaila, Barua, Shuvramoy, Redwan Chowdhury, Mymoon

المصدر: Iranian Journal of Pediatric Surgery; Vol. 10 No. 1 (2024): May; 107-116 ; 2423-7612 ; 2423-5067 ; 10.22037/irjps.v10i1

مصطلحات موضوعية: Hamartoma, Bifid Tongue, Oral-facial-digital syndrome (OFDS), Lingual leiomyomatous hamartoma (LLH)

وصف الملف: application/pdf

العلاقة: https://journals.sbmu.ac.ir/irjps/article/view/37838/33201Test; https://journals.sbmu.ac.ir/irjps/article/view/37838Test

الإتاحة: https://doi.org/10.22037/irjps.v10i1.37838Test
https://doi.org/10.22037/irjps.v10i1Test
https://journals.sbmu.ac.ir/irjps/article/view/37838Test

المؤلفون: Kjøbsted, Camilla Boye, Hovgaard, Ole, Løvschall, Anne Marie Bergmann, Lovschall, Henrik

المصدر: Kjøbsted , C B , Hovgaard , O , Løvschall , A M B & Lovschall , H 2023 , ' Unimaxillary Disturbance of Tooth Development as a Feature of Oral-Facial-Digital Syndrome Type 1 : A Clinical Case Report ' , International Poster Journal of Dentistry and Oral Medicine , vol. 25 , no. 2 , 2542 , pp. 1 . < https://www.quintessence-publishing.com/deu/en/article-download/4097179/international-poster-journal-of-dentistry-andTest-oral-medicine/2023/02/unimaxillary-disturbance-of-tooth-development-as-a-feature-of-oral-facial-digital-syndrome-type-1 >

مصطلحات موضوعية: Oral facial digital syndrome type I (OFD1), genetics, amelogenesis, cementogenesis, dentinogenesis, disturbed tooth development and morphology, periodontitis, dentures

العلاقة: https://pure.au.dk/portal/en/publications/6aa6f400-8054-4ea8-8695-747b5ba558dfTest

الإتاحة: https://pure.au.dk/portal/en/publications/6aa6f400-8054-4ea8-8695-747b5ba558dfTest
https://www.quintessence-publishing.com/deu/en/article-download/4097179/international-poster-journal-of-dentistry-andTest-oral-medicine/2023/02/unimaxillary-disturbance-of-tooth-development-as-a-feature-of-oral-facial-digital-syndrome-type-1

المؤلفون: Sabry Nasr Ahmed, Amna A Ahmed

المصدر: Journal of Clinical and Basic Research, Vol 5, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: anomalies, oral-facial-digital syndrome, x-linked, neonates, Internal medicine, RC31-1245

وصف الملف: electronic resource

العلاقة: http://jcbr.goums.ac.ir/article-1-287-en.htmlTest; https://doaj.org/toc/2538-3736Test

الوصول الحر: https://doaj.org/article/432c4db972184cb3bcc4d79422421543Test

المؤلفون: L. Minaycheva I., G. Seitova N., M. Filippova O., A. Kashevarova A., N. Skryabin A., M. Lopatkina E., Y. Yakovleva S., L. Nazarenko P., I. Lebedev N., Л. Минайчева И., Г. Сеитова Н., М. Филиппова О., А. Кашеварова А., Н. Скрябин А., М. Лопаткина Е., Ю. Яковлева С., Л. Назаренко П., И. Лебедев Н.

المصدر: Medical Genetics; Том 19, № 3 (2020); 55-57 ; Медицинская генетика; Том 19, № 3 (2020); 55-57 ; 2073-7998

مصطلحات موضوعية: пренатальная диагностика, частичная моносомия Хр22 2, оро-фацио-дигитальный синдром, prenatal diagnosis, partial monosomy of Xp22 2, oral-facial-digital syndrome

وصف الملف: application/pdf

العلاقة: https://www.medgen-journal.ru/jour/article/view/831/503Test; https://www.medgen-journal.ru/jour/article/view/831Test

الإتاحة: https://doi.org/10.25557/2073-7998.2020.03.55-57Test
https://www.medgen-journal.ru/jour/article/view/831Test

المؤلفون: Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun‐Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, Biesecker, Leslie G

المصدر: Human Mutation. 31(10)

مصطلحات موضوعية: Genetics, Dental/Oral and Craniofacial Disease, Pediatric, Clinical Research, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Craniofacial Abnormalities, Genotype, Humans, Kruppel-Like Transcription Factors, Mouth Abnormalities, Mutation, Nerve Tissue Proteins, Pallister-Hall Syndrome, Phenotype, Polydactyly, Syndactyly, Zinc Finger Protein Gli3, GLI3, Greig syndrome, Pallister-Hall syndrome, oral-facial-digital syndrome, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6z17j09nTest

المؤلفون: Hossein Emad Momtaz

المصدر: Journal of Nephropathology, Vol 7, Iss 4, Pp 293-295 (2018)

مصطلحات موضوعية: oral facial digital syndrome, end stage renal disease, children, Pathology, RB1-214, Internal medicine, RC31-1245, Other systems of medicine, RZ201-999

وصف الملف: electronic resource

العلاقة: https://nephropathol.com/PDF/jnp-7-293.pdfTest; https://doaj.org/toc/2251-8363Test; https://doaj.org/toc/2251-8819Test

الوصول الحر: https://doaj.org/article/a379329423974c5c8c6984d385daaf49Test

المؤلفون: Masoud DEHGHAN TEZERJANI, Reza MAROOFIAN, Mohammad Yahya VAHIDI MEHRJARDI, Barry A. CHIOZA, Shiva ZAMANINEJAD, Seyed Mehdi KALANTAR, Mahmoud NORI-SHADKAM, Hamidreza GHADIMI, Emma L. BAPLE, Andrew H. CROSBY, Mohammadreza DEHGHANI

المصدر: Iranian Journal of Public Health, Vol 45, Iss 10, Pp 1359-1366 (2016)

مصطلحات موضوعية: OFD1, Oral-facial-digital syndrome, X-linked dominant, Miscarriage, Ciliopathy, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

العلاقة: http://ijph.tums.ac.ir/index.php/ijph/article/view/8076Test; https://doaj.org/toc/2251-6085Test; https://doaj.org/toc/2251-6093Test

الوصول الحر: https://doaj.org/article/7ff126ae686046a1b202f260221cab15Test

المؤلفون: Peter W Duda, Steven R Singer, Maxine Strickland

المصدر: Journal of Orofacial Sciences, Vol 6, Iss 2, Pp 118-121 (2014)

مصطلحات موضوعية: Cleft lip/palate, oral-facial-digital syndrome, oral-facial-digital syndrome, type 1, Dentistry, RK1-715

وصف الملف: electronic resource

العلاقة: http://www.jofs.in/article.asp?issn=0975-8844;year=2014;volume=6;issue=2;spage=118;epage=121;aulast=DudaTest; https://doaj.org/toc/0975-8844Test

الوصول الحر: https://doaj.org/article/11d5094f5d1847ffbb018c221aab9276Test