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المؤلفون: Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Noa Ruhrman-Shahar, Lina Basel-Salmon, Avi Fellner, Ofir Hagari-Bechar, Gabriel Arie Lidzbarsky, Hadar Brown-Shalev, Naama Orenstein, Lily Bazak
المصدر: Genetics in Medicine. 23:1095-1100
مصطلحات موضوعية: 0301 basic medicine, Database, business.industry, Rank (computer programming), MEDLINE, 030105 genetics & heredity, computer.software_genre, Phenotype, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, Human Phenotype Ontology, Mendelian inheritance, symbols, Medicine, business, computer, Mendelian disorders, Exome, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::850b792a041f3cdb868272d137bd64a6Test
https://doi.org/10.1038/s41436-020-01085-7Test -
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المؤلفون: Yael Goldberg, Noa Ruhrman-Shahar, Rivka Sukenik-Halevy, Noy Azulay, Idit Maya, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Lina Basel-Salmon, Ofir Hagari, Nurit Magal, Lily Bazak, Naama Orenstein, Gabriel Arie Lidzbarsky
المصدر: Genetics in Medicine. 23:215-221
مصطلحات موضوعية: Proband, Genetics, medicine.diagnostic_test, Cosegregation, Genetic counseling, Genotype, medicine, Biology, Phenotype, Exome, Genetics (clinical), Exome sequencing, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2b3326d8a841b2e01325d13fcb434c06Test
https://doi.org/10.1038/s41436-020-00938-5Test -
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المؤلفون: Ran Svirsky, Dina Marek-Yagel, Noa Ruhrman-Shahar, Mordechai Shohat, Ofir Hagari, Lina Basel-Salmon, Gabriel Arie Lidzbarsky, Noy Azulai, Lily Bazak, Ortal Barel, Haike Reznik-Wolf
المصدر: European Journal of Medical Genetics. 64:104124
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, 0301 basic medicine, Heterozygote, Pathology, medicine.medical_specialty, Heart malformation, Mutation, Missense, 030105 genetics & heredity, Biology, Compound heterozygosity, Ultrasonography, Prenatal, 03 medical and health sciences, Fetus, Pregnancy, Genetics, medicine, Humans, Genetic Testing, Exome, Alleles, Genetics (clinical), Exome sequencing, Polydactyly, Heart development, Preaxial polydactyly, General Medicine, medicine.disease, Phenotype, Spine, Pedigree, 030104 developmental biology, Homeobox Protein Nkx-2.5, Female, Gene Deletion, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60c3270f3ae2fbed9578898574e77570Test
https://doi.org/10.1016/j.ejmg.2020.104124Test