المؤلفون: Roland Stengl, András Bors, Bence Ágg, Miklós Pólos, Gabor Matyas, Mária Judit Molnár, Bálint Fekete, Dóra Csabán, Hajnalka Andrikovics, Béla Merkely, Tamás Radovits, Zoltán Szabolcs, Kálmán Benke

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Marfan syndrome, Genetic testing, Aortic involvement, Risk stratification, FBN1, Next-generation sequencing, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01569-4; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8223e04783934362a464360837cf6ff9

المؤلفون: Elisa Bombardieri, Marianne Rohrbach, Matthias Greutmann, Gabor Matyas, Roland Weber, Jovana Radulovic, Margrit Fasnacht Boillat, André Linka, Gabriella De Pasquale, Francesca Bonassin, Christine H. Attenhofer Jost

المصدر: Swiss Medical Weekly, Vol 150, Iss 1314 (2020)

مصطلحات موضوعية: Marfan syndrome, connective tissue disorders, Loeys-Dietz syndrome, genetic testing in Marfan syndrome and related conditions, Medicine

وصف الملف: electronic resource

Relation: https://www.smw.ch/index.php/smw/article/view/2750; https://doaj.org/toc/1424-3997

URL الوصول: https://doaj.org/article/72a0b7e4eeec4680bb49558c60300ef0

المؤلفون: Sylvan M. Caspar, Timo Schneider, Janine Meienberg, Gabor Matyas

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 7, p 2308 (2020)

مصطلحات موضوعية: cyp2d6, dpwg, gnomad, next-generation sequencing, precision medicine, pharmacogenetics, pgx, whole-genome sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/21/7/2308; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/9c4415afe19d4ce6815ec7f72d295558

المؤلفون: Michal J Okoniewski, Janine Meienberg, Andrea Patrignani, Alicja Szabelska, Gabor Matyas, Ralph Schlapbach

المصدر: BioTechniques, Vol 54, Iss 2, Pp 98-100 (2013)

مصطلحات موضوعية: sequencing, large deletions, amplicons, PacBio, Illumina, Sanger, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0736-6205; https://doaj.org/toc/1940-9818

URL الوصول: https://doaj.org/article/f363850fc64242efa4b412ee82278823

المؤلفون: Giuseppe Limongelli, Gerarda Cappuccio, Daniela Melis, Martina Caiazza, Marta Rubino, Nicola Brunetti-Pierri, Gabor Matyas, Antonella Iuliano, Alessandro Roca

المساهمون: Cappuccio, Gerarda, Caiazza, Martina, Roca, Alessandro, Melis, Daniela, Iuliano, Antonella, Matyas, Gabor, Rubino, Marta, Limongelli, Giuseppe, Brunetti-Pierri, Nicola

المصدر: American Journal of Medical Genetics. Part a

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, losartan, systemic sclerosis, Heart malformation, Pilot Projects, SMAD4, Myhre syndrome, Congenital, Young Adult, Intellectual Disability, Internal medicine, Cryptorchidism, TGF‐beta, Genetics, medicine, Humans, TGF-beta, Preschool, Child, Growth Disorders, Genetics (clinical), Angiotensin II Type 1 Receptor Blockers, Child, Preschool, Facies, Female, Follow-Up Studies, Hand Deformities, Congenital, Losartan, Prognosis, business.industry, Mean age, Original Articles, Hand Deformities, SMAD4 gene, medicine.disease, Clinical trial, Joint stiffness, Cardiology, Original Article, medicine.symptom, business, Range of motion, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6570d754bfd8e8894c682481b63803a
https://doi.org/10.1002/ajmg.a.62019

المؤلفون: Francesca Bonassin, Murat Yildiz, Giancarlo Bombardieri, Florian Schönhoff, Thierry Carrel, Gabor Matyas, Kerstin Wustmann, Kan Min, Petra Gehle, Christine Attenhofer Jost, Beatrice Früh

المصدر: Zeitschrift für Herz-,Thorax- und Gefäßchirurgie. 34:115-126

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Gynecology, medicine.medical_specialty, business.industry, Medicine, Surgery, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7d9ed866420f70ffbc00f1596da15ed2
https://doi.org/10.1007/s00398-020-00364-4

المؤلفون: Beat Steinmann, Gabor Matyas, Janine Meienberg, Sylvan M. Caspar, Marianne Rohrbach, Arash Najafi

المساهمون: University of Zurich, Matyas, Gabor

المصدر: Clinical Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Fibrillin-2, Fibrillin-1, Disease, digenic variants, 030105 genetics & heredity, Genome, INDEL Mutation, Databases, Genetic, Congenital contractural arachnodactyly, Child, Frameshift Mutation, Genetics (clinical), education.field_of_study, Middle Aged, Phenotype, Pedigree, genome sequencing, Female, Original Article, Adult, 2716 Genetics (clinical), Contracture, Adolescent, Genotype, In silico, Population, 610 Medicine & health, Computational biology, Biology, DNA sequencing, congenital contractural arachnodactyly, 03 medical and health sciences, 1311 Genetics, Genetics, medicine, Humans, education, Alleles, Genetic Association Studies, Aged, Sequence (medicine), Whole Genome Sequencing, variant interpretation, Genetic Variation, Original Articles, medicine.disease, Arachnodactyly, Marfan syndrome, 030104 developmental biology, 10036 Medical Clinic

وصف الملف: CGE-97-235.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12a5630831c3ceee4127463add9491f7
https://doi.org/10.1111/cge.13640

المؤلفون: Kerstin Wustmann, Beatrice Früh, Murat Yildiz, Petra Gehle, Thierry Carrel, Kan Min, Florian S. Schoenhoff, Giancarlo Bombardieri, Gabor Matyas, Francesca Bonassin, Christine Attenhofer Jost

المصدر: Yildiz, Murat; Gabor, Matyas; Wustmann, Kerstin; Attenhofer Jost, Christine; Bonassin, Francesca; Früh, Beatrice; Kan, Min; Gehle, Petra; Bombardieri, Giancarlo; Carrel, Thierry; Schoenhoff, Florian (2021). Interdisciplinary care of people with Marfan syndrome-Pharmacology, pregnancy, eye, skeleton and organizational aspects. Zeitschrift für Herz-,Thorax-und Gefäßchirurgie, 35(4), pp. 232-241. Springer 10.1007/s00398-021-00444-z <http://dx.doi.org/10.1007/s00398-021-00444-z>

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, medicine, Surgery, 610 Medicine & health, 030212 general & internal medicine, 030204 cardiovascular system & hematology, Cardiology and Cardiovascular Medicine, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16647df1ec4e00a667cec2bf02bffa57
https://boris.unibe.ch/157709/1/Yildiz2021_Article_Interdisziplin_reBetreuungVonM.pdf

المؤلفون: Miklós Pólos, Béla Merkely, Kálmán Benke, Zoltán Szabolcs, Gábor Szabó, Bence Ágg, Tamás Radovits, Gabor Matyas, Roland Stengl

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: musculoskeletal diseases, Marfan syndrome, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Connective Tissue Disorder, Fibrillin-1, Genotype–phenotype correlations, macromolecular substances, Review, 030204 cardiovascular system & hematology, Risk Assessment, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Quality of life, medicine, Humans, Pharmacology (medical), Prophylactic surgery, Intensive care medicine, Pathological, Genetic Association Studies, Genetics (clinical), Genetic testing, Aortic dissection, medicine.diagnostic_test, Predictors, business.industry, General Medicine, medicine.disease, Prophylactic Surgery, Human genetics, Quality of Life, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87c73661c2f9a0ef07caafd3b48ab646
https://doi.org/10.1186/s13023-021-01882-6

المؤلفون: Sylvan M. Caspar, Timo Schneider, Janine Meienberg, Patricia Stoll, Gabor Matyas

المصدر: Pharmacogenomics. 22(3)

مصطلحات موضوعية: Pharmacology, Profiling (computer programming), Whole genome sequencing, Whole Genome Sequencing, Gene Expression Profiling, High-Throughput Nucleotide Sequencing, Computational biology, Biology, Precision medicine, DNA sequencing, Patient care, Pharmacogenomic Testing, Structural variation, Pharmacogenetics, Genetics, Molecular Medicine, Humans, Precision Medicine, Genotyping

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac0daecbc9df585e75e8f7cfffc3195f
https://pubmed.ncbi.nlm.nih.gov/33517770