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1
المؤلفون: Naama Yosha-Orpaz, Tally Lerman-Sagie, Keren Yosovich, Miri Yanoov-Sharav, Dvora Kidron, Hila Gur, R. Birnbaum, Gustavo Malinger, Dorit Lev
المصدر: American Journal of Medical Genetics Part A. 179:78-84
مصطلحات موضوعية: Male, 0301 basic medicine, Protein-Arginine N-Methyltransferases, Pathology, medicine.medical_specialty, Developmental Disabilities, Intrauterine growth restriction, Astrocytoma, Arginine, Compound heterozygosity, Methylation, Short stature, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Pregnancy, Intellectual Disability, Genetics, medicine, Humans, Global developmental delay, Genetics (clinical), Fetal Growth Retardation, business.industry, Brachydactyly, Infant, Newborn, Infant, medicine.disease, Hypotonia, 030104 developmental biology, Mutation, Muscle Hypotonia, Orbital Neoplasms, Female, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ed2f6ea600ec14b1c9636a06929e215Test
https://doi.org/10.1002/ajmg.a.6Test -
2
المؤلفون: Jiang Wu, Dorit Lev, Jiqiang Ling, Sarit Bahar, Tally Lerman-Sagie, Esther Leshinsky-Silver, Miri Yanoov-Sharav, Chana Vinkler, Keren Yosovich
المصدر: Neurogenetics. 18(3)
مصطلحات موضوعية: 0301 basic medicine, Microcephaly, 030105 genetics & heredity, Biology, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, Cellular and Molecular Neuroscience, Epilepsy, Atrophy, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Exome sequencing, Progressive microcephaly, Brain Diseases, Homozygote, Brain, Disease gene identification, medicine.disease, Phenotype, Mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef338b763aedb3dc368752baf283056aTest
https://pubmed.ncbi.nlm.nih.gov/28620870Test -
3
المؤلفون: Sarit Cohen, Miri Yanoov-Sharav, Mira Ginzberg, Chana Vinkler, Dorit Lev, Marina Michelson, Menahem Sadeh, Esther Leshinsky-Silver, Tally Lerman-Sagie
المصدر: Journal of Genetic Counseling. 21:557-563
مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Genetic counseling, Population, Genetic Counseling, Asymptomatic, medicine, Humans, Presymptomatic Testing, Facioscapulohumeral muscular dystrophy, Genetic Testing, Israel, Muscular dystrophy, education, Genetics (clinical), Genetic testing, Genetics, education.field_of_study, medicine.diagnostic_test, business.industry, Sequence Analysis, DNA, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Human genetics, Pedigree, Female, Chromosomes, Human, Pair 4, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b28bfb6142e31945a475e16b4ef7da17Test
https://doi.org/10.1007/s10897-011-9422-5Test -
4
المؤلفون: Tal Kaplan, Noa Hoffmann, Ester Preisler, Alex Zudik, Dorit Lev, Udi Raz, Miri Yanoov-Sharav, Hanna Vinkler, Gustavo Malinger, Michal Daniely
المصدر: Genetic Testing. 9:41-47
مصطلحات موضوعية: medicine.medical_specialty, Amniotic fluid, medicine.diagnostic_test, Hybridization probe, Cytogenetics, Aneuploidy, Karyotype, Prenatal diagnosis, Biology, medicine.disease, Molecular biology, Karyotyping, Prenatal Diagnosis, medicine, Humans, Fish
, Amnion, Interphase, In Situ Hybridization, Fluorescence, Genetics (clinical), Fluorescence in situ hybridization الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea08cdebdc197630f61cc3f759ca1f31Test
https://doi.org/10.1089/gte.2005.9.41Test -
5
المؤلفون: Tally Lerman-Sagie, Eli Gilad, Esther Leshinsky-Silver, Miri Yanoov-Sharav, Z Tzofi-Berman, Sarit Cohen, Ann Saada, Dorit Lev
المصدر: Biochemical and biophysical research communications. 334(2)
مصطلحات موضوعية: Male, Mitochondrial DNA, Biophysics, Respiratory chain, Mutation, Missense, Biology, Gene mutation, medicine.disease_cause, Biochemistry, DNA, Mitochondrial, NDUFA9, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Leigh disease, Molecular Biology, Genetics, Mutation, Electron Transport Complex I, Infant, Newborn, Infant, Proteins, Cell Biology, medicine.disease, Molecular biology, Heteroplasmy, Leigh Disease, Nervous System Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6d37460f265e053ee34ded0cbc35beeTest
https://pubmed.ncbi.nlm.nih.gov/16023078Test -
6
المؤلفون: Miri Yanoov-Sharav, Nathan Watemberg, Hadas Kalish, Dorit Lev, Esther Leshinsky-Silver, Chana Vinkler, Tally Lerman-Sagie
المصدر: American journal of medical genetics. Part A. (3)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, genetic structures, Adolescent, Eye disease, DNA Mutational Analysis, Optic Atrophy, Hereditary, Leber, medicine.disease_cause, Blindness, DNA, Mitochondrial, Genetic determinism, Cerebral Ventricles, White matter, Pathogenesis, Central nervous system disease, Atrophy, medicine, Humans, Genetics (clinical), Mutation, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, eye diseases, medicine.anatomical_structure, Child, Preschool, sense organs, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6ee722c0cb500d2b78b2a3bfea89fe2Test
https://pubmed.ncbi.nlm.nih.gov/12923868Test -
7
المؤلفون: Miri Yanoov-Sharav, Eli Hershkovitz, Michal Perach, Tally Lerman-Sagie, Dorit Lev, Erena Basilevsky, Esther Leshinsky-Silver
المصدر: Prenatal diagnosis. 23(1)
مصطلحات موضوعية: Adult, Mitochondrial DNA, Genetic counseling, DNA Mutational Analysis, Chorionic villus sampling, Prenatal diagnosis, Genetic Counseling, Biology, DNA, Mitochondrial, Polymerase Chain Reaction, Pregnancy, Prenatal Diagnosis, medicine, Humans, Point Mutation, Leigh disease, Genetics (clinical), Genetics, medicine.diagnostic_test, Point mutation, Pregnancy Outcome, Obstetrics and Gynecology, medicine.disease, Heteroplasmy, Chorionic Villi Sampling, Amniocentesis, Female, Leigh Disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0879f98a1ca5f701a3e8014b1e9a199fTest
https://pubmed.ncbi.nlm.nih.gov/12533809Test -
8
المؤلفون: Marek Glezerman, Gustavo Malinger, Miri Yanoov-Sharav, Liat Ben-Sira, Tally Lerman-Sagie, Dorit Lev, Chana Vinkler, Dvora Kidron, N. Zahalka
المصدر: Ultrasound in Obstetrics and Gynecology. 22:1-1
مصطلحات موضوعية: Nervous system, medicine.medical_specialty, Neurology clinic, Fetus, Pathology, Radiological and Ultrasound Technology, business.industry, Obstetrics and Gynecology, General Medicine, medicine.anatomical_structure, Reproductive Medicine, Multidisciplinary approach, medicine, Radiology, Nuclear Medicine and imaging, Intensive care medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::70e9b597dcea335b3e533e6f55ca6ed9Test
https://doi.org/10.1002/uog.863Test -
9دورية أكاديمية
المؤلفون: Dorit Lev, Michal Daniely, Alex Zudik, Ester Preisler, Noa Hoffmann, Tal Kaplan, Udi Raz, Miri Yanoov-Sharav, Hanna Vinkler, Gustavo Malinger
المصدر: Genetic Testing; Spring2005, Vol. 9 Issue 1, p41-47, 7p