المؤلفون: Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman

المصدر: HGG Advances, Vol 6, Iss 1, Pp 100380- (2025)

مصطلحات موضوعية: CUL3, intellectual disability, DNA methylation, episignature, NEDAUS, genotype-phenotype correlation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724001209; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/4d2c1e6771da43cd9a0c73ae48b1b4d3

المؤلفون: Bengisu Guner Yilmaz, Ozlem Akgun-Dogan, Ozkan Ozdemir, Bayram Yuksel, Ozden Hatirnaz Ng, Kaya Bilguvar, Beril Ay, Gulsah Sebnem Ozkose, Eylul Aydin, Ayca Yigit, Aybike Bulut, Fatma Nisa Esen, Serdar Beken, Selma Aktas, Atalay Demirel, Baran Cengiz Arcagok, Ebru Kazanci, İbrahim Bingol, Ozge Umur, Guntulu Sik, Ugur Isik, Melike Ersoy, Ayse Korkmaz, Agop Citak, Adil Mardinoglu, Ugur Ozbek, Yasemin Alanay

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: rapid genome sequencing, critically ill patient, pediatric intensive care unit, neonatal intensive care unit, trio sequencing, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1412880/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/09a390dd2ca34c80943a1799cdb86d67

المؤلفون: Ozlem Akgun-Dogan, Ecenur Tuc Bengur, Beril Ay, Gulsah Sebnem Ozkose, Emre Kar, Fuat Baris Bengur, Aybike S. Bulut, Ayca Yigit, Eylul Aydin, Fatma Nisa Esen, Ozkan Ozdemir, Ahmet Yesilyurt, Yasemin Alanay

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: whole-genome sequencing, first tier, diagnostic yield, undiagnosed patients, pediatric geneticist, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1347474/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/fbfb26af32114dc3a7672dd93e05d909

المؤلفون: Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Achondroplasia, Registry, Real-world data, Real-world evidence, Growth, Quality of life, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/ce49780aedce497cb9c4ad067e8be933

المؤلفون: Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Ricki Carroll, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Carlos Prada, Daniel Hoernschemeyer, Keiichi Ozono, Takuo Kubota, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane White, Shelley Brandstetter, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Asako Tajima, Donald Basel, Elena Fisheleva, Andrea Low, Sue Lawrinson, Jonathan Day

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101036- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424001821; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/d444baf1306a40b8b82f2f3f208e1f3e

المؤلفون: Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Ricki Carroll, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Carlos Prada, Daniel Hoernschemeyer, Keiichi Ozono, Takuo Kubota, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane White, Shelley Brandstetter, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Asako Tajima, Donald Basel, Elena Fisheleva, Richard Rowell, Alice Huntsman Labed, Jonathan Day

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101038- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424001845; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/974a5c00c4b44b7f8f7d001a9668a033

المؤلفون: Ayhan Kubar, Sehime Gülsüm Temel, Serdar Beken, Gizem Onder, Ozden Hatirnaz, Ayse Korkmaz, Yasemin Alanay, Ugur Ozbek, Sebnem Ozemri Sag, Mahmut Cerkez Ergoren, Elif Kubar, Candan Zeynep Sonmezalp, Ozlem Doğan

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

مصطلحات موضوعية: DBS, direct test, newborn screening, SMA, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/8e9b296ac0c9461bbb8e809e7092feb7

المؤلفون: Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio

المصدر: Frontiers in Public Health, Vol 11 (2023)

مصطلحات موضوعية: undiagnosed diseases, developing nations, rare diseases, survey, GPD, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpubh.2023.1248260/full; https://doaj.org/toc/2296-2565

URL الوصول: https://doaj.org/article/da71af76c6954864ad49d713a5a8c259

المؤلفون: Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad

المصدر: HGG Advances, Vol 4, Iss 3, Pp 100213- (2023)

مصطلحات موضوعية: exome sequencing, Mendelian disease, Mendelian disorder, congenital contractures, distal arthrogryposis, cardiomyopathy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000453; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/08f67d5e060d475c83319e61695d173d

المؤلفون: Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada

المصدر: Frontiers in Public Health, Vol 11 (2023)

مصطلحات موضوعية: Undiagnosed Diseases, rare diseases, developing nations, data sharing, survey, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpubh.2023.1079601/full; https://doaj.org/toc/2296-2565

URL الوصول: https://doaj.org/article/2227df40187d4d7eabf002601c80d926

المؤلفون: Ozden Hatirnaz Ng, Ilayda Sahin, Yucel Erbilgin, Ozkan Ozdemir, Emrah Yucesan, Nazli Erturk, Merve Yemenici, Ozlem Akgun Dogan, Sibel Aylin Ugur Iseri, Ilhan Satman, Yasemin Alanay, Ugur Ozbek

المصدر: Frontiers in Public Health, Vol 10 (2023)

مصطلحات موضوعية: rare disease, survey, Türkiye, ISTisNA, patient expectations, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpubh.2022.1049349/full; https://doaj.org/toc/2296-2565

URL الوصول: https://doaj.org/article/04f3831b7dfa494d8f90a8d3bad42d91

المؤلفون: Julie Hoover-Fong, Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael Bober, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel Hoernschemeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Shoji Kagami, Natsuo Yasui, Klane White, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Donald Basel, Dania Porco, Kala Jayaram, Elena Fisheleva, Sue Lawrinson, Jonathan Day

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100222- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423002224; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/4f5f1607f51849a8afba6cd0d6181111

المؤلفون: Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina

المصدر: Genes; Volume 14; Issue 6; Pages: 1179

مصطلحات موضوعية: SETD2, Luscan–Lumish syndrome, Rabin–Pappas syndrome, intellectual developmental disorder, autosomal dominant 70, overgrowth, intellectual disability, autism spectrum disorder, MRD70, LLS, RAPAS

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14061179

الاتاحة: https://doi.org/10.3390/genes14061179

المؤلفون: Tugce Bozkurt, Yasemin Alanay, Ugur Isik, Ugur Sezerman

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Whole exome sequencing, SLC2A1, GLUT1 Deficiency Syndrome 1, Ketogenic diet, Hemangioma, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/ddadac4c328e46dab5887c0a938b7e9b

المؤلفون: Sevinç Aksay, İbrahim Bildirici, Cemile Banu Coşar, Yasemin Alanay, Engin Ciğercioğulları

المصدر: Türk Oftalmoloji Dergisi, Vol 50, Iss 4, Pp 245-247 (2020)

مصطلحات موضوعية: class 3 variant of uncertain significance (c755a>g [p.lys252arg]), congenital cataract, autosomal recessive inheritance, Medicine, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.oftalmoloji.org/archives/archive-detail/article-preview/ntrauterine-cataract-diagnosis-and-follow-up/40091; https://doaj.org/toc/1300-0659; https://doaj.org/toc/2147-2661

URL الوصول: https://doaj.org/article/ebd8f7bafa9743fd9fd977ba48e052c7

المؤلفون: Ceren Saygı, Yasemin Alanay, Uğur Sezerman, Aslı Yenenler, Nesrin Özören

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: FZD6, Whole exome sequencing, Consanguinity, Autosomal recessive, Nail dysplasia, Turkey, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0746-6; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/bf1f2b0051df4f6689786b8f11bb0a6c

المؤلفون: Ozlem Akgun-Dogan, Ecenur Tuc Bengur, Beril Ay, Gulsah Sebnem Ozkose, Emre Kar, Fuat Baris Bengur, Aybike S. Bulut, Ayca Yigit, Eylul Aydin, Fatma Nisa Esen, Ozkan Ozdemir, Ahmet Yesilyurt, Yasemin Alanay

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, whole-genome sequencing, first tier, diagnostic yield, undiagnosed patients, pediatric geneticist

Relation: https://figshare.com/articles/dataset/Table2_Impact_of_deep_phenotyping_high_diagnostic_yield_in_a_diverse_pediatric_population_of_172_patients_through_clinical_whole-genome_sequencing_at_a_single_center_XLSX/25414525

الاتاحة: https://doi.org/10.3389/fgene.2024.1347474.s002

المؤلفون: Gülen Eda Utine, Yasemin Alanay, Dilek Aktaş, Koray Boduroğlu, Mehmet Alikaşifoğlu, Ergül Tunçbilek

المصدر: Journal of Pediatric Research, Vol 4, Iss 2, Pp 63-67 (2017)

مصطلحات موضوعية: Gorlin syndrome, hairy patch, chromosome instability, sister chromatid exchange, hypopigmented lesion, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://jpedres.org/article_15022/Gorlin-Syndrome-In-Eleven-Patients; https://doaj.org/toc/2147-9445

URL الوصول: https://doaj.org/article/3d949a63ce1549af89babbf3e9d713a7

المؤلفون: Jarred W. Rensvold, Evgenia Shishkova, Yuriy Sverchkov, Ian J. Miller, Arda Cetinkaya, Angela Pyle, Mateusz Manicki, Dain R. Brademan, Yasemin Alanay, Julian Raiman, Adam Jochem, Paul D. Hutchins, Sean R. Peters, Vanessa Linke, Katherine A. Overmyer, Austin Z. Salome, Alexander S. Hebert, Catherine E. Vincent, Nicholas W. Kwiecien, Matthew J. P. Rush, Michael S. Westphall, Mark Craven, Nurten A. Akarsu, Robert W. Taylor, Joshua J. Coon, David J. Pagliarini

المساهمون: Acibadem University Dspace

المصدر: Nature

مصطلحات موضوعية: Proteomics, Mitochondrial Diseases, Multidisciplinary, Proteome, Systems Biology, Cell Cycle Proteins, Mass Spectrometry, Article, Mitochondria, Mitochondrial Proteins, Lipidomics, Humans, Metabolomics, Energy Metabolism, Cation Transport Proteins, Transcription Factors, rab5 GTP-Binding Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::110ea389757cf2663921890242d13c0b
https://doi.org/10.1038/s41586-022-04765-3

المؤلفون: Deniz Aslan, Ozlem Akgun‐Dogan, Beril Ay, Mahmut Orhun Çamurdan, Hanifenur Mancılar, Yasemin Alanay

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c9be94ebc2cdb68609a9c2af9dfc4234
https://doi.org/10.1002/ajmg.c.32043