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1
المؤلفون: Ester Sallicandro, Maria Teresa Liambo, Antonio Novelli, Maria Grazia Di Gregorio, Valeria Orlando, Michela Canestrelli, Marcello Niceta, Francesco Corrado, Gianluca Di Giacomo, Anna Maria Nardone, Bruno Dallapiccola, Silvia Di Tommaso, Viola Alesi, Giusy Calvieri, Giuseppe Barrano, Chiara Calacci
المصدر: Reproductive Sciences. 28:1142-1149
مصطلحات موضوعية: 0301 basic medicine, Amniotic fluid, DNA Copy Number Variations, Genetic counseling, Chromosome Disorders, Genetic Counseling, Context (language use), Prenatal diagnosis, Bioinformatics, Ultrasonography, Prenatal, Cytogenetics, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Humans, Medicine, Genetic Testing, Copy-number variation, Uncertain significance, 030219 obstetrics & reproductive medicine, business.industry, Ultrasound, Obstetrics and Gynecology, 030104 developmental biology, medicine.anatomical_structure, Karyotyping, Chorionic villi, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264fa9d97d1ec16127214997e92a2cfdTest
https://doi.org/10.1007/s43032-020-00419-9Test -
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المؤلفون: Daniele Pompili, Viola Alesi, Maria Cristina Digilio, Antonio Novelli, Maria Lisa Dentici, Silvia Genovese, Roberto Falasca, Chiara Calacci, Maria Teresa Liambo, Bruno Dallapiccola, Giorgia Catino, Silvia Di Tommaso, Daniele Ferretti, Valeria Orlando, Sara Loddo
المصدر: American Journal of Medical Genetics Part A. 185:242-249
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Weakness, business.industry, Genetic disorder, medicine.disease, Bioinformatics, Short stature, Autism spectrum disorder, Intellectual disability, Genetics, medicine, cardiovascular diseases, medicine.symptom, Craniofacial, business, Haploinsufficiency, Neurocognitive, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::58c8fdeb79e02651f36886275d6999b6Test
https://doi.org/10.1002/ajmg.a.61937Test -
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المؤلفون: Viola Alesi, Maria Teresa Liambo, Antonio Novelli, Sara Loddo, Chiara Calacci, Silvia Genovese, Maria Lisa Dentici, Valeria Orlando, Bruno Dallapiccola, Daniele Pompili, Fabrizia Restaldi, Maria Cristina Digilio
المصدر: Cytogenetic and Genome Research. 156:87-94
مصطلحات موضوعية: 0301 basic medicine, Genetics, Clinodactyly, GDF5, Biology, Growth hormone–releasing hormone, 03 medical and health sciences, 030104 developmental biology, medicine, Craniofacial, Chromosome 20, medicine.symptom, Growth delay, Haploinsufficiency, Molecular Biology, Genetics (clinical), SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fb1bd7ee678918901f246f011df80463Test
https://doi.org/10.1159/000493935Test -
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المؤلفون: Bruno Dallapiccola, Andrea Diociaiuti, Rossella Capolino, Maria Lisa Dentici, Valeria Orlando, Chiara Calacci, Viola Alesi, Antonio Novelli, Maria Teresa Liambo, Maria Cristina Digilio, Fabrizia Restaldi, May El Hachem
المصدر: American Journal of Medical Genetics Part A. 173:1943-1946
مصطلحات موضوعية: 0301 basic medicine, Genetics, education.field_of_study, Pathology, medicine.medical_specialty, Population, Isochromosome, Aneuploidy, 030105 genetics & heredity, Biology, medicine.disease, Hypotonia, 03 medical and health sciences, Pallister–Killian syndrome, Tetrasomy, medicine, Supernumerary, medicine.symptom, education, Genetics (clinical), Hypopigmentation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ac0d3c9e331f6fdf5f421eceaf90984Test
https://doi.org/10.1002/ajmg.a.38269Test