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المؤلفون: Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox
المصدر: Human Mutation. 43:2265-2278
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ebf531dddae20bafeb98c6c321455e5Test
https://doi.org/10.1002/humu.24479Test -
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المؤلفون: Marina Michelson, Emanuela Argilli, Ronen Hady-Cohen, Michal Gafner, Eleina M. England, Dorit Lev, Elliott H. Sherr, Keren Yosovich, Z. Leibovitz, Yael Michaeli-Yosef, Lubov Blumkin, Tally Lerman-Sagie, Kendall C. Parks
المصدر: Journal of human genetics, vol 67, iss 2
J Hum Genetمصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Clinical Sciences, Nervous System Malformations, Corpus callosum, Article, Dysgenesis, Clinical Research, Exome Sequencing, Genetics, Polymicrogyria, Humans, 2.1 Biological and endogenous factors, Medicine, Global developmental delay, Aetiology, Child, Preschool, Genetics (clinical), Septum pellucidum, Exome sequencing, Family Health, Pediatric, Genetics & Heredity, business.industry, Human Genome, Neurosciences, Brain, Infant, Perisylvian polymicrogyria, medicine.disease, Magnetic Resonance Imaging, Brain Disorders, Repressor Proteins, Child, Preschool, Agenesis, Mutation, Neurological, Septum Pellucidum, Agenesis of Corpus Callosum, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3078d15fb3d624f337dd03b0aaf43258Test
https://doi.org/10.1038/s10038-021-00971-5Test -
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المؤلفون: Marina Michelson, Gabriel Lidzbarsky, Daniella Nishri, Ifat Israel‐Elgali, Rachel Berger, Michal Gafner, Noam Shomron, Dorit Lev, Yael Goldberg
المصدر: American journal of medical genetics. Part A. 188(7)
مصطلحات موضوعية: Eyelashes, Neurodevelopmental Disorders, Genetics, Humans, Forkhead Transcription Factors, Lymphedema, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abea2f2eb05ed76e1be3a4cf30673d55Test
https://pubmed.ncbi.nlm.nih.gov/35312147Test -
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المؤلفون: Lubov Blumkin, Dorit Lev, Ronen Hady-Cohen, Marina Michelson, Shlomi Constantini, Keren Yosovich, Tally Lerman-Sagie, Hana Leiba, Idit Maharshak
المصدر: Journal of Child Neurology. 34:506-510
مصطلحات موضوعية: biology, business.industry, Macrocephaly, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Cancer research, PTEN, Tensin, 030212 general & internal medicine, Neurology (clinical), medicine.symptom, Carcinogenesis, business, Papilledema, Acetazolamide, 030217 neurology & neurosurgery, PI3K/AKT/mTOR pathway, medicine.drug, Intracranial pressure
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::71bc4ecddf26396be9e499f7bc307973Test
https://doi.org/10.1177/0883073819842970Test -
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المؤلفون: Ronen, Hady-Cohen, Idit, Maharshak, Marina, Michelson, Keren, Yosovich, Dorit, Lev, Shlomi, Constantini, Hana, Leiba, Tally, Lerman-Sagie, Lubov, Blumkin
المصدر: Journal of child neurology. 34(9)
مصطلحات موضوعية: Male, Phenotype, Child, Preschool, Siblings, Mutation, PTEN Phosphohydrolase, Humans, Intracranial Hypertension, Child, Megalencephaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::bf49732c15486da3b2a89a4974b42d1bTest
https://pubmed.ncbi.nlm.nih.gov/31046523Test -
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المؤلفون: Dorit Lev, Keren Yosovich, Marina Michelson, Lubov Blumkin, Michal Gafner, Tally Lerman-Sagie
المصدر: European Journal of Medical Genetics. 63:103801
مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Pathology, medicine.medical_specialty, Adolescent, Neurodegeneration with brain iron accumulation, Pontocerebellar hypoplasia, Late onset, 030105 genetics & heredity, Biology, Group VI Phospholipases A2, 03 medical and health sciences, Atrophy, Anterior Horn Cell, Anterior Horn Cells, Cerebellar Diseases, Genetics, medicine, Humans, Age of Onset, Child, Cerebellar hypoplasia, Genetics (clinical), Spinocerebellar Degenerations, Infant, Newborn, General Medicine, Prognosis, medicine.disease, Phenotype, 030104 developmental biology, Mutation, Female, Cerebellar atrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c0bec7a8e62b49f352324c1895eae3fTest
https://doi.org/10.1016/j.ejmg.2019.103801Test -
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المؤلفون: Lubov Blumkin, Tal Kopler, Teisha Y. Bradshaw, Dvir Dahari, J. Paul Chapple, Marina Michelson, Tally Lerman-Sagie, Dorit Lev, Esther Leshinsky-Silver
المصدر: European Journal of Paediatric Neurology. 19:472-476
مصطلحات موضوعية: Male, Retinal degeneration, Heterozygote, Pathology, medicine.medical_specialty, Ataxia, Gene mutation, Compound heterozygosity, chemistry.chemical_compound, medicine, Humans, Spinocerebellar Ataxias, Spasticity, Child, Heat-Shock Proteins, Cerebellar ataxia, business.industry, Retinal Degeneration, Retinal, General Medicine, medicine.disease, Mitochondria, Phenotype, Peripheral neuropathy, chemistry, Muscle Spasticity, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7519b4dbb1b56df0c4f41fe88a23569Test
https://doi.org/10.1016/j.ejpn.2015.02.005Test -
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المؤلفون: Dorit Lev, Ayelet Zerem, Tally Lerman-Sagie, Lubov Blumkin, Sara Kivity, Marina Michelson, Esther Leshinsky-Silver
المصدر: European Journal of Paediatric Neurology. 19:292-297
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Ataxia, Audiology, Tonic (physiology), Ocular Motility Disorders, Benign paroxysmal torticollis, medicine, Humans, Child, Exome sequencing, Episodic ataxia, Paroxysmal vertigo, Cerebellar ataxia, Infant, General Medicine, Paroxysmal dyskinesia, medicine.disease, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Vertigo, Female, Calcium Channels, Neurology (clinical), Nervous System Diseases, medicine.symptom, Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50aba175c66e0feb40996cb92b9dcb76Test
https://doi.org/10.1016/j.ejpn.2014.12.018Test