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1
المؤلفون: Rivka, Sukenik-Halevy, Sharon, Perlman, Noa, Ruhrman-Shahar, Offra, Engel, Naama, Orenstein, Claudia, Gonzaga-Jauregui, Alan R, Shuldiner, Nurit, Magal, Ofir, Hagari, Noy, Azulay, Gabriel Arie, Lidzbarsky, Lily, Bazak, Lina, Basel-Salmon
المصدر: Prenatal Diagnosis. 42:717-724
مصطلحات موضوعية: Cohort Studies, Polyhydramnios, Fetal Growth Retardation, Phenotype, Pregnancy, Prenatal Diagnosis, Prevalence, Humans, Obstetrics and Gynecology, Exome, Female, Ultrasonography, Prenatal, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac338ab5fd16a44b9b10f6d51b5b4d72Test
https://doi.org/10.1002/pd.6095Test -
2
المؤلفون: Rivka Sukenik-Halevy, Noa Ruhrman-Shahar, Lina Basel-Salmon, Noy Azulay, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Ofir Hagari, Lily Bazak, Nurit Magal, Gabriel Arie Lidzbarsky, Naama Orenstein
المصدر: Prenatal Diagnosis. 41:701-707
مصطلحات موضوعية: 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, Noninvasive Prenatal Testing, MEDLINE, Prenatal diagnosis, 030105 genetics & heredity, 03 medical and health sciences, Fetus, 0302 clinical medicine, Pregnancy, Exome Sequencing, Humans, Medicine, Exome, Genetics (clinical), Exome sequencing, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics and Gynecology, Cohort, Female, business, Neurocognitive
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f23243101fb9b3cae897459b69ed1b8Test
https://doi.org/10.1002/pd.5929Test -
3
المؤلفون: Noam Shomron, Noa Ruhrman-Shahar, Nurit Magal, Noy Azulay, Ofir Hagari, Naama Orenstein, Lina Basel-Salmon, Yael Goldberg, Yoel Gofin, Lily Bazak
المصدر: Clinical Genetics. 101:265-266
مصطلحات موضوعية: Metabolic Syndrome, Genetics, DYRK1B, business.industry, Cognition, Haploinsufficiency, Protein Serine-Threonine Kinases, Protein-Tyrosine Kinases, medicine.disease, Phenotype, medicine, Humans, Genetic Predisposition to Disease, Metabolic syndrome, business, Genetic Association Studies, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4db506e6a2356e36bc8d6f1b92ee1c94Test
https://doi.org/10.1111/cge.14084Test -
4
المؤلفون: Avi, Fellner, Noa, Ruhrman-Shahar, Naama, Orenstein, Gabriel, Lidzbarsky, Alan R, Shuldiner, Claudia, Gonzaga-Jauregui, Hadar, Brown-Shalev, Ofir, Hagari-Bechar, Lily, Bazak, Lina, Basel-Salmon
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(6)
مصطلحات موضوعية: Phenotype, Databases, Factual, Genotype, Databases, Genetic, Exome Sequencing, Humans, Exome, Female, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8c725ffb6e475c74968fadde1727b4f9Test
https://pubmed.ncbi.nlm.nih.gov/33473205Test -
5
المؤلفون: Lina, Basel-Salmon, Noa, Ruhrman-Shahar, Naama, Orenstein, Yael, Goldberg, Claudia, Gonzaga-Jauregui, Alan R, Shuldiner, Rivka, Sukenik-Halevy, Idit, Maya, Nurit, Magal, Ofir, Hagari, Noy, Azulay, Gabriel Arie, Lidzbarsky, Lily, Bazak
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(1)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::1035f7bce60887ebdf245e8eafe69396Test
https://pubmed.ncbi.nlm.nih.gov/32801363Test -
6
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