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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: 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: 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