Ayelet Zerem

পেশা: গবেষক

Series

এখানে কিছুই নেই

নতুন সিরিজ তৈরি করুন

Works

এখানে কিছুই নেই

নতুন কাজ তৈরি করুন

নিবন্ধসমূহ 22

তারিখ

শিরোনাম

লেখকগণ

2020-03-04

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

Liat Gindes, Dorit Lev, William B. Dobyns, Ayelet Zerem, Tally Lerman-Sagie
2020-01-14

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

Gillian I. Rice, Mathieu Rodero, Keith van Haren, Christiane Zweier, Dorit Lev, Alexandre Belot, Delphine Héron, Ayelet Zerem
2020-05-18

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

Dorit Lev, Ayelet Zerem
2020-11-04

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

Ingrid Scheffer, Dorit Lev, Renzo Guerrini, Boudewijn Gunning, Lynette Sadleir, Felix Rosenow, Heather C. Mefford, Samuel Berkovic, Rikke S Møller, Sanjay M Sisodiya, Mark F Bennett, Michael S. Hildebrand, Amy L Schneider, Nienke E Verbeek, Philipp Reif, Eva Brilstra, Zaid Afawi, Hannah Stamberger, Bobby Koeleman, Peter Procopis, Christina D Fenger, Gali Heimer, Nicolas Chatron, Eric W Klee, Alison M Muir, Candace T Myers, Danique R M Vlaskamp, Bruria Ben Zeev, Patrick Edery, Gaetan Lesca, Richard J Leventer, Martino Montomoli, Elena Parrini, Helenius J Schelhaas, Thomas Smol, Judith S Verhoeven, Ayelet Zerem
2020-10-20

Clinical phenotypes of infantile onset CACNA1A-related disorder

Dorit Lev, Ayelet Zerem
2019-10-17

Brain white matter abnormalities associated with copy number variants

Nitzan Vigdorovich, Dorit Lev, Ayelet Zerem, Tally Lerman-Sagie
2019-04-10

Metabolic stroke in a patient with bi-allelic OPA1 mutations

Ayelet Zerem, Dorit Lev, Tally Lerman-Sagie
2018-03-13

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.

Yoshinori Tsurusaki, Tally Lerman-Sagie, Dorit Lev, Ayelet Zerem
2018-05-25

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

Ana Westenberger, Hilla Benpazi, Dorit Lev, Ayelet Zerem, Tally Lerman-Sagie
2018-09-27

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

Kazuhiro Iwama, Atsushi Takata, Hirotomo Saitsu, Dorit Lev, Ayelet Zerem, Tally Lerman-Sagie
2017-08-20

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Geneviève Bernard, Adeline Vanderver, Keith van Haren, Nicole I Wolf, Ayelet Zerem
2016-09-26

The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

Amélie Piton, Hirotomo Saitsu, এলিজাবেথ ই পামার, Cheryl Shoubridge, Tally Lerman-Sagie, Esther Leshinsky-Silver, Dorit Lev, Eric Kossoff, Ayelet Zerem
2016-08-29

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.

Tally Lerman-Sagie, Esther Leshinsky-Silver, Dorit Lev, Ayelet Zerem
2015-11-13

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

Ronen Spiegel, Tally Lerman-Sagie, Ayelet Zerem
2015-07-09

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.

Tally Lerman-Sagie, Esther Leshinsky-Silver, Dorit Lev, Ayelet Zerem
2015-01-08

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

Tally Lerman-Sagie, Esther Leshinsky-Silver, Dorit Lev, Ayelet Zerem
2014-04-18

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

Hadassa Goldberg-Stern, Esther Leshinsky-Silver, Tally Lerman-Sagie, Hirotomo Saitsu, Dorit Lev, Ayelet Zerem
2013-09-19

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

Esther Leshinsky-Silver, Tally Lerman-Sagie, Dorit Lev, Ayelet Zerem
2013-02-01

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: no doubt.

Tally Lerman-Sagie, Gustavo Malinger, Dorit Lev, Ayelet Zerem
2012-10-12

Resolution of epileptic encephalopathy following treatment with transdermal nicotine

Esther Leshinsky-Silver, Tally Lerman-Sagie, Dorit Lev, Ayelet Zerem
2012-01-12

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero.

Gustavo Malinger, Tally Lerman-Sagie, Dorit Lev, Ayelet Zerem
2011-11-03

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia

Esther Leshinsky-Silver, Dorit Lev, Ayelet Zerem, Tally Lerman-Sagie

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