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المؤلفون: Jessika Johannsen, Jonas Denecke, Roberto Colombo, Tatjana Bierhals, Marta Bertoli, Franziska Degenhardt, Eva Wohlleber, Tim M. Strom, Alexander M. Zink, Jessica Becker, Davor Lessel, Elisabeth Mangold, Dagmar Wieczorek, Laura M Yates, Kirsten Cremer, Hartmut Engels, Kerstin U. Ludwig, Sophia Peters, Theresia Herget, Maja Hempel, Isabelle C Windheuser, Hela Hundertmark
المصدر: Am. J. Med. Genet. A 182, 1021-1031 (2020)
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, Adolescent, Medizin, Nerve Tissue Proteins, Haploinsufficiency, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Short stature, Young Adult, 03 medical and health sciences, Intellectual Disability, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Obesity, Child, Genetics (clinical), Exome sequencing, Point mutation, Macrocephaly, Microarray Analysis, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Chromosomes, Human, Pair 2, Female, Chromosomal Microarray, Microdeletion 2p25, 3, Myt1l, Whole Exome Sequencing, Chromosome Deletion, medicine.symptom, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6687b40b1f36cdad3881b0200ff57d0Test
https://doi.org/10.1002/ajmg.a.61515Test -
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المؤلفون: Susan E. Holder, Sally Ann Lynch, Usha Kini, Siddharth Banka, Suresh Somarathi, Shane McKee, Kay Metcalfe, Marta Bertoli, Marc Tischkowitz, Laura M Yates, Sofia Douzgou, Hui Wen Liang, Wafik Mohamed
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Presentation, business.industry, media_common.quotation_subject, Medicine, business, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::da836168c7028e710dcb4564f15497a4Test
https://doi.org/10.1111/cge.13554/v2/response1Test -
3دورية أكاديمية
المؤلفون: Torsten Zuberbier, Amir Abdul Latiff, Xenofon Aggelidis, Matthias Augustin, Radu‐Gheorghe Balan, Christine Bangert, Lisa Beck, Thomas Bieber, Jonathan A. Bernstein, Marta Bertolin Colilla, Alejandro Berardi, Anna Bedbrook, Carsten Bindslev‐Jensen, Jean Bousquet, Marjolein deBruin‐Weller, Dayanne Bruscky, Betul Buyuktiryaki, Giorgio Walter Canonica, Carla Castro, Natia Chanturidze, Herberto Jose Chong‐Neto, Chia‐Yu Chu, Leena Chularojanamontri, Michael Cork, Roberta F. J. Criado, Laia Curto Barredo, Adnan Custovic, Ulf Darsow, Arben Emurlai, Ana dePablo, Stefano DelGiacco, Giampiero Girolomoni, Tanja Deleva Jovanova, Mette Deleuran, Nikolaos Douladiris, Bruno Duarte, Ruta Dubakiene, Esben Eller, Batya Engel‐Yeger, Luis Felipe Ensina, Nelson Rosario Filho, Carsten Flohr, Daria Fomina, Wojciech Francuzik, Maria Laura Galimberti, Ana M. Giménez‐Arnau, Kiran Godse, Charlotte Gotthard Mortz, Maia Gotua, Michihiro Hide, Wolfram Hoetzenecker, Nicolas Hunzelmann, Alan Irvine, Carolyn Jack, Ioanna Kanavarou, Norito Katoh, Tamar Kinaciyan, Emek Kocatürk, Kanokvalai Kulthanan, Hilde Lapeere, Susanne Lau, Mariana Machado Forti Nastri, Michael Makris, Eli Mansour, Alexander Marsland, Mara Morelo Rocha Felix, Ana Paula Moschione Castro, Eustachio Nettis, J. F. Nicolas, Audrey Nosbaum, Mikaela Odemyr, Niki Papapostolou, Claudio A. S. Parisi, Sushil Paudel, Jonny Peter, Prakash Pokharel, Luis Puig, Tamara Quint, German Dario Ramon, Frederico Regateiro, Giampaolo Ricci, Cristine Rosario, Cansin Sackesen, Peter Schmid‐Grendelmeier, Esther Serra‐Baldrich, Kristina Siemens, Cathrine Smith, Petra Staubach, Katarina Stevanovic, Özlem Su‐Kücük, Gordon Sussman, Simona Tavecchio, Natasa Teovska Mitrevska, Diamant Thaci, Elias Toubi, Claudia Traidl‐Hoffmann, Regina Treudler, Zahava Vadasz, Ingrid vanHofman, Maria Teresa Ventura, Zhao Wang, Thomas Werfel, Andreas Wollenberg, Ariana Yang, Yik Weng Yew, Zuotao Zhao, Ricardo Zwiener, Margitta Worm
المصدر: Clinical and Translational Allergy, Vol 13, Iss 9, Pp n/a-n/a (2023)
مصطلحات موضوعية: atopic dermatitis, eczema, guidance, ICP, integrated care pathways, multidisciplinary, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-7022Test
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المؤلفون: Marcella Palmisano, Maria Paola Bonasoni, Viola Alesi, Gabriele Tonni, Maria Bellotti, Marta Bertoli
المصدر: Congenital Anomalies. 55:65-70
مصطلحات موضوعية: Embryology, Fetus, medicine.medical_specialty, medicine.diagnostic_test, Obstetrics, Genetic counseling, Chorionic villus sampling, Karyotype, General Medicine, Biology, medicine.disease, Pediatrics, Perinatology and Child Health, medicine, Gestation, Increased nuchal translucency, Developmental Biology, Comparative genomic hybridization, Tetralogy of Fallot
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2c9d48bd791702f9b0e14ce97ab9cc97Test
https://doi.org/10.1111/cga.12078Test -
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المؤلفون: C. Palmieri, Anna Maria Nardone, Stefania Zampatti, Francesca Gullotta, M.R. Abate, Marina Frontali, Antonio Novelli, Viola Alesi, Marta Bertoli
المصدر: American journal of medical genetics. Part A 161 (2013): 2004–2008. doi:10.1002/ajmg.a.35991
info:cnr-pdr/source/autori:Bertoli M.; Alesi V.; Gullotta F.; Zampatti S.; Abate M.R.; Palmieri C.; Novelli A.; Frontali M.; Nardone A.M./titolo:Another patient with 12q13 microduplication/doi:10.1002%2Fajmg.a.35991/rivista:American journal of medical genetics. Part A/anno:2013/pagina_da:2004/pagina_a:2008/intervallo_pagine:2004–2008/volume:161مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hyperkeratosis, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome 12, Phenocopy, Comparative Genomic Hybridization, Chromosomes, Human, Pair 12, Wolf-Hirschhorn Syndrome, business.industry, medicine.disease, Phenotype, Associated phenotype, Wolf-Hirschhorn syndrome phenocopy, Review Literature as Topic, Homogeneous, Female, 12q13 duplication, Chromosome Deletion, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eff38363dcbb49e786551132b837614fTest
https://doi.org/10.1002/ajmg.a.35991Test -
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المؤلفون: Nicoletta Resta, Anna Maria Nardone, Donatella Capodiferro, Carmela Serlenga, Francesco Susca, Marta Bertoli, Nicola Laforgia, Diana Pastorivo, Federico Schettini, Lucrezia Maria de Cosmo, MariaGabriella Burattini
المصدر: American Journal of Medical Genetics Part A. 161:632-636
مصطلحات موضوعية: Genetics, Monosomy, Craniofacial abnormality, Chromosomal translocation, Trigonocephaly, Biology, Cortical dysplasia, medicine.disease, medicine, Craniofacial, Trisomy, Genetics (clinical), Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6b8cd1541666d8ec3faa63b8062f760bTest
https://doi.org/10.1002/ajmg.a.35777Test -
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المؤلفون: Giuseppe Barrano, Anna Capalbo, Mario Pacella, Cristina Haass, Daria Darelli, Viola Alesi, Marta Bertoli, Antonio Novelli, Katia Petrilli, Sara Morara, Maurizio Finocchi
المصدر: American Journal of Medical Genetics Part A. 155:2543-2551
مصطلحات موضوعية: Male, Genetics, Comparative Genomic Hybridization, Infant, Trigonocephaly, Biology, medicine.disease, Phenotype, Metopic craniosynostosis, Craniosynostosis, Craniosynostoses, Chromosome 4, Karyotyping, medicine, Humans, Chromosome Deletion, Chromosomes, Human, Pair 4, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc4eed972d34468ea008dfa693685b23Test
https://doi.org/10.1002/ajmg.a.34201Test -
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المؤلفون: Viola Alesi, Marta Bertoli, Lorenzo Sinibaldi, Antonio Novelli
المصدر: BJOG: An International Journal of Obstetrics & Gynaecology. 120:119-120
مصطلحات موضوعية: Pregnancy, Pathology, medicine.medical_specialty, Microarray analysis techniques, business.industry, medicine, MEDLINE, Obstetrics and Gynecology, Prenatal diagnosis, Bioinformatics, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c9b03cff70faadb26dfc24200820b7a8Test
https://doi.org/10.1111/1471-0528.12017Test -
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