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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)
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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
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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)
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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::71bc4ecddf26396be9e499f7bc307973
https://doi.org/10.1177/0883073819842970 -
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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::bf49732c15486da3b2a89a4974b42d1b
https://pubmed.ncbi.nlm.nih.gov/31046523 -
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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
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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
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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
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المؤلفون: Marina Michelson, Tally Lerman-Sagie, Chana Vinkler, Dorit Lev, Esther Leshinsky-Silver, Dorothea Haas
المصدر: European Journal of Medical Genetics. 57:288-292
مصطلحات موضوعية: Microcephaly, Pediatrics, medicine.medical_specialty, Hepatosplenomegaly, Genes, Recessive, Short stature, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Growth Disorders, Genetics (clinical), Growth deficiency, business.industry, Siblings, High myopia, Syndrome, General Medicine, medicine.disease, Face, Female, Abnormality, medicine.symptom, Linear growth, business
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المؤلفون: Dorit Lev, Marina Michelson, Chana Vinkler, Michael Davidovitch, Orna Vardi, Tally Lerman-Sagie
المصدر: European Journal of Paediatric Neurology. 16:95-98
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Clinodactyly, Developmental Disabilities, Trisomy, Locus (genetics), Physical examination, medicine, Humans, Autistic Disorder, Psychiatry, Hemihypertrophy, Chromosome 7 (human), medicine.diagnostic_test, Mosaicism, Silver–Russell syndrome, General Medicine, Uniparental Disomy, medicine.disease, Silver-Russell Syndrome, Child, Preschool, Clinical diagnosis, Pediatrics, Perinatology and Child Health, Autism, Neurology (clinical), medicine.symptom, Psychology, Chromosomes, Human, Pair 7