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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: 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: 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