المؤلفون: Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers

المصدر: Biomolecules, Vol 14, Iss 3, p 367 (2024)

مصطلحات موضوعية: maculopathies, macula, retinal, inherited, sequencing, penetrance, Microbiology, QR1-502

Relation: https://www.mdpi.com/2218-273X/14/3/367; https://doaj.org/toc/2218-273X; https://doaj.org/article/a59ac914048b4e7daf70faf03534c762

الاتاحة: https://doi.org/10.3390/biom14030367
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762

المؤلفون: Tryfon Rotsos, Evangelia Papakonstantinou, Chrysanthos Symeonidis, Augoustinos Krassas, Smaragda Kamakari

المصدر: American Journal of Ophthalmology Case Reports, Vol 26, Iss , Pp 101452- (2022)

مصطلحات موضوعية: Wolfram syndrome, Leber's hereditary optic neuropathy, Optical coherence tomography, Fluorescein angiography, Genetic analysis, Electrophysiology, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993622001980; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/1b551a3f86d648bf9315294bc4b59298

المؤلفون: Bharesh K. Chauhan, Anagha Medsinge, Matthew P. Baumgartner, Hannah L. Scanga, Smaragda Kamakari, Eva Gajdosova, Carlos J. Camacho, Ken K. Nischal

المصدر: American Journal of Ophthalmology Case Reports, Vol 10, Iss , Pp 172-179 (2018)

مصطلحات موضوعية: Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993617302578; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/c1d43e8bccff4b4c8b57b21e1f519066

المؤلفون: Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman

المصدر: EBioMedicine, Vol 30, Iss , Pp 86-93 (2018)

مصطلحات موضوعية: Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396418300641; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/3670bb9d88df4ad19193530872b41183

المؤلفون: Smaragda Kamakari, Vassiliki Kokkinou, George Koutsodontis, Polixeni Stamatiou, Christoforos Giatzakis, Anastasios Anastasakis, Ioannis Minas Aslanides, Stavrenia Koukoula, Theoni Panagiotoglou, Ioannis Datseris, Miltiadis K. Tsilimbaris

المصدر: Journal of Ophthalmology, Vol 2018 (2018)

مصطلحات موضوعية: Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-004X; https://doaj.org/toc/2090-0058

URL الوصول: https://doaj.org/article/093c07b15bc245f89a7efe09896e3420

المؤلفون: Smaragda Kamakari, Anagha Medsinge, Ken K. Nischal, Bharesh K. Chauhan, Carlos J. Camacho, Matthew P. Baumgartner, Hannah L. Scanga, Eva Gajdosova

المصدر: American Journal of Ophthalmology Case Reports, Vol 10, Iss, Pp 172-179 (2018)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, genetic structures, Nystagmus, 03 medical and health sciences, 0302 clinical medicine, Cataracts, lcsh:Ophthalmology, Ophthalmology, Female patient, medicine, Missense mutation, Genetic testing, medicine.diagnostic_test, business.industry, medicine.disease, Phenotype, eye diseases, 030104 developmental biology, lcsh:RE1-994, 030221 ophthalmology & optometry, Congenital cataracts, PAX6, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f0333619d1df0b723543ba00efdc7d0
http://www.sciencedirect.com/science/article/pii/S2451993617302578

المؤلفون: Ymkje M. Hettinga, Karsten Hufendiek, Jacek P. Szaflik, Ian M. MacDonald, Isabelle Meunier, Marcela D. Mena, Kaoru Fujinami, Mubeen Khan, Eyal Banin, Elfride De Baere, G. Jane Farrar, Adrian Dockery, Rianne Miller, Tamar Ben-Yosef, Manar Salameh, L. Ingeborgh van den Born, Anna M Tracewska, Sandro Banfi, Caroline C W Klaver, John N. De Roach, Carmen Ayuso, Sabine Defoort, Damjan Glavač, Ulrich Kellner, Juliana Maria Ferraz Sallum, Claire-Marie Dhaenens, Stéphanie S. Cornelis, Bernhard H. F. Weber, Klaus Rüther, Jennifer A. Thompson, Bernard Puech, Raj Ramesar, Aurore Devos, Lisa Roberts, Herbert Jägle, Osvaldo L. Podhajcer, Hadas Newman, Bohdan Kousal, Femke Bults, Marta Del Pozo-Valero, Marc Pieterse, Laura Whelan, Xavier Zanlonghi, Alaa AlTalbishi, Francesca Simonelli, Marloes Steehouwer, Caroline Thuillier, Frans P.M. Cremers, Andrea L Vincent, Smaragda Kamakari, Ana Fakin, Anna Matynia, Dror Sharon, Ketan Mishra, Mariana Vallim Salles, Heidi Stöhr, Miriam Bauwens, Petra Liskova, Esmee H. Runhart, Buhle Ntozini, Georg Spital, Carel B. Hoyng, Takaaki Hayashi, Terri L. McLaren, Martine van Zweeden, Lubica Dudakova, Camiel J. F. Boon, Christian Gilissen, Jacquie Greenberg, Monika Ołdak, Tina M. Lamey, Yahya AlSwaiti, Alexander Hoischen, Marianthi Karali, Michael B. Gorin

المساهمون: Ophthalmology, ANS - Complex Trait Genetics, Khan, Mubeen, Cornelis, Stéphanie S, Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H, Mishra, Ketan, Bults, Femke, Alswaiti, Yahya, Altalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J F, van den Born, L Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B, Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M, Hoischen, Alexander, Hoyng, Carel B, Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C W, Kousal, Bohdan, Lamey, Tina M, Macdonald, Ian M, Matynia, Anna, Mclaren, Terri L, Mena, Marcela D, Meunier, Isabelle, Miller, Rianne, Newman, Hada, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L, Puech, Bernard, Ramesar, Raj, Rüther, Klau, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloe, Szaflik, Jacek P, Thompson, Jennifer A, Thuillier, Caroline, Tracewska, Anna M, van Zweeden, Martine, Vincent, Andrea L, Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H F, Dhaenens, Claire-Marie, Cremers, Frans P M

المصدر: Genetics in Medicine
Genetics in medicine, 22(7), 1235-1246. Lippincott Williams and Wilkins
Genetics in Medicine, 22, 7, pp. 1235-1246
GENETICS IN MEDICINE
Genetics in Medicine, 22(7), 1235-1246. Lippincott Williams & Wilkins
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Genetics in Medicine, 22(7), 1235-1246. NATURE PUBLISHING GROUP
Genetics in Medicine, 22, 1235-1246

مصطلحات موضوعية: DEEP-INTRONIC VARIANTS, Proband, smMIP, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], ABCA4, RPE65, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Macular Degeneration, Exon, 0302 clinical medicine, Missing heritability problem, purl.org/becyt/ford/3.2 [https], Medicine and Health Sciences, smMIPs, MUTATION, Genetics (clinical), Genetics, variants, 0303 health sciences, structural, biology, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, DYSTROPHY, Pedigree, 3. Good health, Stargardt disease, MATERNAL UNIPARENTAL ISODISOMY, purl.org/becyt/ford/3 [https], RETINAL, CHROMOSOME-1, PATIENT, STRUCTURAL VARIANTS, Deep sequencing, 03 medical and health sciences, SDG 3 - Good Health and Well-being, deep-intronic variants, REVEALS, medicine, Humans, 030304 developmental biology, REPAIR, deep-intronic variant, structural variants, medicine.disease, GENE, Introns, Uniparental Isodisomy, Mutation, 030221 ophthalmology & optometry, biology.protein, ATP-Binding Cassette Transporters, Transcriptome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3bc891c1991aee449da207a212dba0

المؤلفون: Carel B. Hoyng, Yahya AlSwaiti, Lubica Dudakova, Alexander Hoischen, Lisa Roberts, Christian Gilissen, Michael B. Gorin, Marc Pieterse, Isabelle Meunier, Damjan Glavač, Jacek P. Szaflik, Andrea L Vincent, Dror Sharon, Xavier Zanlonghi, Martine van Zweeden, Monika Ołdak, Bernard Puech, Camiel J. F. Boon, Femke Bults, Anna M. Tracewska, Marloes Steehouwer, Caroline C W Klaver, Jacquie Greenberg, Hadas Newman, Bohdan Kousal, Miriam Bauwens, Bernard H.F. Weber, Smaragda Kamakari, G. Jane Farrar, Eyal Banin, Elfride De Baere, Jennifer A. Thompson, Adrian Dockery, Marcela D. Mena, Tamar Ben-Yosef, Manar Salameh, Laura Whelan, Tina M. Lamey, L. Ingeborgh van den Born, Ana Fakin, Frans P.M. Cremers, Klaus Rüther, Buhle Ntozini, Sandro Banfi, Claire-Marie Dhaenens, Raj Ramesar, Georg Spital, Osvaldo L. Podhajcer, Heidi Stöhr, Ulrich Kellner, Esmee H. Runhart, Herbert Jägle, John N. De Roach, Kaoru Fujinami, Marta Del Pozo-Valero, Takaaki Hayashi, Juliana Maria Ferraz Sallum, Petra Liskova, Terri L. McLaren, Karsten Hufendiek, Marianthi Karali, Stéphanie S. Cornelis, Sabine Defoort, Ymkje M. Hettinga, Francesca Simonelli, Alaa AlTabishi, Mubeen Khan, Caroline Thuillier, Anna Matynia, Carmen Ayuso, Ketan Mishra, Mariana Vallim Salles, Ian M. MacDonald, Aurore Devos, Rianne Miller

مصطلحات موضوعية: Genetics, 0303 health sciences, Sequence analysis, Genomics, Biology, medicine.disease, DNA sequencing, Stargardt disease, 03 medical and health sciences, Exon, 0302 clinical medicine, Missing heritability problem, 030221 ophthalmology & optometry, medicine, Coding region, Gene, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e07f399c9d8c1ee433e6af3c48b541

المؤلفون: Bharesh K, Chauhan, Anagha, Medsinge, Matthew P, Baumgartner, Hannah L, Scanga, Smaragda, Kamakari, Eva, Gajdosova, Carlos J, Camacho, Ken K, Nischal

المصدر: American Journal of Ophthalmology Case Reports

مصطلحات موضوعية: Nystagmus, Brief report, Novel PAX6 missense mutations, Intact irides, Pyramidal cataracts, eye diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7b0c153325eec5d62203264e0c9a6e16
https://pubmed.ncbi.nlm.nih.gov/29780932

المؤلفون: Ioannis Chatzidakis, Anastasia Roussou, Ioannis Ragoussis, Smaragda Kamakari, Andrew Jefferson, Nicholas P. Anagnou

مصطلحات موضوعية: Gene isoform, Genetics, Immunology, Alternative splicing, Chromosomal translocation, Cell Biology, Hematology, Biology, Biochemistry, Fusion protein, Complementary DNA, Chromosomal region, Gene, Regulator gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c01f63a1623ea31568079542c07f38b2
https://ora.ox.ac.uk/objects/uuid:1879e7aa-b639-410d-a473-23eb7dc64298

المؤلفون: Smaragda Kamakari, George Koutsodontis, Athanassios Vratimos, Themistoklis Konstantinidis, Alexandra Chrisoulidou, Christoforos Giatzakis, Kalliopi Pazaitou-Panayiotou

المصدر: Thyroid. 20:401-406

مصطلحات موضوعية: Adult, Male, Proband, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Multiple Endocrine Neoplasia Type 2a, Multiple endocrine neoplasia type 2, RET proto-oncogene, Biology, Proto-Oncogene Mas, Exon, Endocrinology, Germline mutation, medicine, Humans, Missense mutation, Thyroid Neoplasms, Aged, Sequence Deletion, Genetics, Base Sequence, Transition (genetics), Proto-Oncogene Proteins c-ret, medicine.disease, Carcinoma, Medullary, Female, Age of onset

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a53a22d3e7ccbc08b799edf79a28dc
https://doi.org/10.1089/thy.2009.0262

المؤلفون: Sotirios A. Raptis, G. Peros, Dimitrios Hadjidakis, Smaragda Kamakari, Melpomeni Peppa, Georgios Koutsodontis, Vassiliki Metaxa-Mariatou, Eleni Boutati, Vasilios Pikounis, Theofanis Economopoulos

المصدر: Clinical Endocrinology. 70:75-81

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Mutation, Missense, Biology, Gene mutation, medicine.disease_cause, White People, Frameshift mutation, Exon, Endocrinology, Germline mutation, Internal medicine, Multiple Endocrine Neoplasia Type 1, medicine, Humans, Missense mutation, MEN1, Frameshift Mutation, Multiple endocrine neoplasia, Germ-Line Mutation, Aged, Genetics, Mutation, Polymorphism, Genetic, Greece, Middle Aged, medicine.disease, Pedigree, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341da55ff4b3f2add5594940a0c03909
https://doi.org/10.1111/j.1365-2265.2008.03308.x

المؤلفون: Smaragda Kamakari, Ioannis Ragoussis, Anastasia Roussou, Andrew Jefferson, Nicholas P. Anagnou

المصدر: Leukemia Research. 29:17-31

مصطلحات موضوعية: Gene isoform, Cancer Research, Operon, Molecular Sequence Data, Gene Expression, Biology, Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative, Gene cluster, Gene expression, Humans, Amino Acid Sequence, Gene, Adaptor Proteins, Signal Transducing, Regulator gene, chemistry.chemical_classification, Genetics, Base Sequence, Microfilament Proteins, Alternative splicing, Autophagy-Related Protein 8 Family, Hematology, Dishevelled, Alternative Splicing, Oncology, chemistry, Chromosomes, Human, Pair 5, Chromosome Deletion, Carrier Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4e3a9f29ed5144b91e45d9040dc4c41
https://doi.org/10.1016/j.leukres.2004.04.019

المؤلفون: Smaragda, Kamakari¹, Vassiliki, Kokkinou¹, George, Koutsodontis¹, Polixeni, Stamatiou¹, Christoforos, Giatzakis², Anastasios, Anastasakis³, Minas, Aslanides Ioannis⁴, Stavrenia, Koukoula⁵, Theoni, Panagiotoglou⁶, Ioannis, Datseris⁷, Miltiadis, Tsilimbaris K.⁶

المصدر: Journal of Ophthalmology. 4/30/2018, p1-10. 10p.

مصطلحات موضوعية: *GENETICS of retinal degeneration, *ALLELES, *GENETIC polymorphisms, *GLYCOPROTEINS, *GENETIC mutation, *POLYMERASE chain reaction, *MICROARRAY technology, *SEQUENCE analysis

مصطلحات جغرافية: GREECE

المؤلفون: Constantinos Alexandridis, George Koutsodontis, Dimitrios Rigopoulos, G. Kostakis, Vaia Lambadiari, Michael Makris, Nikolaos Papadogeorgakis, Smaragda Kamakari, Alexandros Katoulis, Nikolaos Stavrianeas, Christos Perisanidis, Vasiliki Koumaki, Evanthia Chrysomali, Dimitra Koumaki

المصدر: Oncology Reports.

مصطلحات موضوعية: Adult, Male, Proto-Oncogene Proteins B-raf, Silent mutation, Cancer Research, Biology, medicine.disease_cause, White People, Proto-Oncogene Proteins p21(ras), medicine, Humans, Missense mutation, HRAS, Gene, Aged, Neoplasm Staging, Aged, 80 and over, Genetics, Greece, Intron, Cancer, General Medicine, Middle Aged, Cell cycle, medicine.disease, stomatognathic diseases, Oncology, Mutation, Carcinoma, Squamous Cell, Cancer research, Female, Mouth Neoplasms, Carcinogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245eb76e2675ba60e276693b017fd6fe
https://doi.org/10.3892/or.2012.1653

المؤلفون: Smaragda Kamakari, Florentia Fostira, Irene Konstantopoulou, Georgia Thodi, P S Athanasopoulos, Sophia Armaou, Helen Gogas, George Fountzilas, Maroulio Pertesi, A Athanasiou, Drakoulis Yannoukakos

المصدر: British Journal of Cancer

مصطلحات موضوعية: Oncology, Adult, Cancer Research, medicine.medical_specialty, Population, Genes, BRCA1, hereditary breast-ovarian cancer, Breast Neoplasms, Biology, medicine.disease_cause, Young Adult, Breast cancer, Germline mutation, Internal medicine, Clinical Studies, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Genetic Testing, education, skin and connective tissue diseases, Genetic testing, Aged, Genetics, Aged, 80 and over, Mutation, education.field_of_study, medicine.diagnostic_test, Greece, Cancer, Exons, genetic screening, Middle Aged, medicine.disease, BRCA1, BRCA2, founder mutation, Female, Breast disease, germ-line mutation, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e50a397a34140e7f4c4de4a2fa143788
https://pubmed.ncbi.nlm.nih.gov/19491894

المؤلفون: Sotirios A. Raptis, Eleni Boutati, Dimitrios Hadjidakis, Smaragda Kamakari, George Peros, Melpomeni Peppa, Vasilios Pikounis, Theofanis Economopoulos, Ioannis Panayiotides

المصدر: European journal of endocrinology. 159(6)

مصطلحات موضوعية: Adult, Male, endocrine system, medicine.medical_specialty, Pathology, endocrine system diseases, Medullary cavity, Endocrinology, Diabetes and Metabolism, Glycine, Multiple Endocrine Neoplasia Type 2a, RET proto-oncogene, medicine.disease_cause, Proto-Oncogene Mas, Germline, Thyroid carcinoma, Pheochromocytoma, Exon, Young Adult, Endocrinology, Internal medicine, medicine, Carcinoma, Humans, Point Mutation, Cysteine, Thyroid Neoplasms, Aged, Aged, 80 and over, Mutation, business.industry, Proto-Oncogene Proteins c-ret, General Medicine, Syndrome, Middle Aged, medicine.disease, Pedigree, Phenotype, Amino Acid Substitution, Carcinoma, Medullary, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4305aeeddd8904bac81da15aa084057
https://pubmed.ncbi.nlm.nih.gov/18805915

المؤلفون: George Fountzilas, Smaragda Kamakari, Irene Konstantopoulou, Angela Ladopoulou, George Nikolopoulos, Evangelia Razis, Iordanis Arzimanoglou, Theodore Anagnostopoulos, Christos Markopoulos, Thalia Bei, Nikos Pandis, Drakoulis Yannoukakos, Helen Gogas, George Nounesis, Sophia Armaou, Charisios Karanikiotis, Theodore Rampias, Antonios Keramopoulos, George Koutsodontis, Antonis Stylianakis, Dimosthenis Skarlos, Vassiliki Gaki

المصدر: Breast cancer research and treatment. 107(3)

مصطلحات موضوعية: Cancer Research, endocrine system diseases, Cost-Benefit Analysis, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Biology, Germline, Germline mutation, Breast cancer, medicine, Humans, skin and connective tissue diseases, Genetic testing, Genetics, Ovarian Neoplasms, medicine.diagnostic_test, Greece, Cancer, medicine.disease, Oncology, Mutation (genetic algorithm), Mutation, Mutation testing, Female, Ovarian cancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e5d40ad4a5fb8578db107202d1595c
https://pubmed.ncbi.nlm.nih.gov/17453335

المؤلفون: Case Report, John E Griniatsos, Nikoletta Dimitriou, Athanassios Zilos, Stratigoula Sakellariou, Konstantinos Evangelou, Smaragda Kamakari, Penelope Korkolopoulou, Gregory Kaltsas

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/e0/dd/World_J_Surg_Oncol_2011_Jan_25_9_6.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.293.4721

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.293.4721

المؤلفون: Panagiotis Nikolopoulos, Melpomeni Peppa, Sotirios A. Raptis, Theofanis Economopoulos, Smaragda Kamakari, Dimitrios Hadjidakis, Eleni Boutati, Christoforos Giatzakis

المصدر: Case Reports. 2009:bcr0220091574-bcr0220091574

مصطلحات موضوعية: Pathology, medicine.medical_specialty, endocrine system diseases, business.industry, Nonsense mutation, General Medicine, urologic and male genital diseases, medicine.disease, Spinal cord, Article, female genital diseases and pregnancy complications, Germline, Exon, Germline mutation, medicine.anatomical_structure, Renal cell carcinoma, medicine, Cancer research, Pancreatic cysts, Von Hippel–Lindau disease, business, neoplasms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6cb43d1c6c73194206ec39a3042204
https://doi.org/10.1136/bcr.02.2009.1574