Keren Yosovich

发表

Clinical phenotypes of infantile onset CACNA1A-related disorder.

E. Bertini, D. Lev, B. Pode-Shakked, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

D. Lev, E. Sherr, T. Lerman-Sagie, 2021, Journal of human genetics.

Multiple Causes of Pediatric Early Onset Chorea—Clinical and Genetic Approach

D. Lev, H. Ben-Pazi, T. Lerman-Sagie, 2018, Neuropediatrics.

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

D. Lev, W. Dobyns, L. Ben‐Sira, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations

D. Lev, T. Lerman-Sagie, G. Malinger, 2018, American journal of medical genetics. Part A.

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2013, JIMD reports.

Glycogen Debrancher Enzyme Deficiency Myopathy.

M. Sadeh, R. Dabby, Keren Yosovich, 2021, Journal of clinical neuromuscular disease.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Saskia M. J. Hopman, R. Pfundt, E. van Binsbergen, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

D. Lev, N. Bright, T. Cox, 2022, medRxiv.

Expanding the natural history of CASK‐related disorders to the prenatal period

E. Boltshauser, R. Battini, G. Zanni, 2022, Developmental medicine and child neurology.

Renin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 gene

M. Zennaro, Z. Landau, R. Vargas-Poussou, 2020, The Journal of Steroid Biochemistry and Molecular Biology.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.

D. Lev, T. Lerman-Sagie, Keren Yosovich, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis

D. Lev, D. Sharon, K. Koch, 2018, Front. Mol. Neurosci..

Metabolic stroke in a patient with bi-allelic OPA1 mutations

D. Lev, L. Ben‐Sira, T. Lerman-Sagie, 2019, Metabolic Brain Disease.

Congenital Mirror Movements Associated With Brain Malformations

D. Lev, T. Lerman-Sagie, L. Blumkin, 2021, Journal of child neurology.

Brain white matter abnormalities associated with copy number variants

A. Vanderver, D. Lev, L. Ben‐Sira, 2020, American journal of medical genetics. Part A.

Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum

D. Lev, S. Constantini, T. Lerman-Sagie, 2019, Journal of child neurology.

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.

D. Lev, H. Lerche, T. Lerman-Sagie, 2018, Brain : a journal of neurology.

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival

D. Lev, L. Ben‐Sira, T. Lerman-Sagie, 2020, neurogenetics.

A new locus (SPG47) maps to 1p13.2–1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2011, Journal of the Neurological Sciences.

Painful small fiber neuropathy with gastroparesis: A new phenotype with a novel mutation in the SCN10A gene

E. Leshinsky‐Silver, M. Sadeh, R. Dabby, 2016, Journal of Clinical Neuroscience.

Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.

D. Lev, T. Lerman-Sagie, L. Blumkin, 2020, European journal of medical genetics.

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

K. Bhatia, D. Lev, W. Dobyns, 2020, American journal of medical genetics. Part A.

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

D. Lev, E. Sherr, T. Lerman-Sagie, 2021, Journal of Human Genetics.

Utility of genetic testing in children with leukodystrophy.

D. Lev, A. Fattal-Valevski, A. Mory, 2023, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.

D. Lev, N. Matsumoto, H. Saitsu, 2020, European journal of medical genetics.

Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation

E. Leshinsky‐Silver, D. Lev, Jiqiang Ling, 2017, neurogenetics.

Metabolic stroke in a patient with bi-allelic OPA1 mutations

D. Lev, L. Ben‐Sira, T. Lerman-Sagie, 2019, Metabolic Brain Disease.