T. Hershkovitz

发表

Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

G. Ast, H. Mandel, D. Oz-Levi, 2016, Clinical genetics.

Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

H. Baris, K. Weiss, N. Ekhilevitch, 2018, Rambam Maimonides medical journal.

Development of a Computerized Morphometry Application for Assessment of the Tumor Fraction in Colon Carcinoma Tissue Samples

T. Hershkovitz, E. Sabo, D. Hershkovitz, 2012, Applied immunohistochemistry & molecular morphology : AIMM.

Novel NCF2 Mutation Causing Chronic Granulomatous Disease

D. Hagin, T. Hershkovitz, L. Bentur, 2020, Journal of Clinical Immunology.

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

H. Mandel, H. Baris, N. Ekhilevitch, 2016, American journal of human genetics.

Diagnosing heart failure in children with congenital heart disease and respiratory syncytial virus bronchiolitis.

T. Hershkovitz, R. Brik, I. Shavit, 2014, American Journal of Emergency Medicine.

KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases

H. Otsubo, L. Lingappa, T. Hershkovitz, 2020, Epilepsia.

Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations

B. Funke, A. Kurolap, T. Hershkovitz, 2019, American journal of medical genetics. Part A.

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

H. Mandel, A. Shuldiner, J. Overton, 2019, Journal of Human Genetics.

Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

M. Giladi, T. Hershkovitz, Shai Berlin, 2021, eLife.

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

R. Pfundt, V. Shashi, T. Kleefstra, 2021, American journal of medical genetics. Part A.

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

H. Mandel, Ann Saada, J. Staples, 2020, Molecular genetics and metabolism reports.

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype

F. Glaser, A. Shuldiner, J. Overton, 2018, Journal of Medical Genetics.

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

Dvir Dahary, P. Nürnberg, T. Hershkovitz, 2013, American journal of human genetics.

Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency

D. Mevorach, A. Kurolap, A. Mory, 2019, Journal of pediatric gastroenterology and nutrition.

Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.

D. Geiger, H. Mandel, D. Magen, 2017, The New England journal of medicine.

Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

G. Carvill, P. Striano, L. Bird, 2021, bioRxiv.

A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper‐IgE syndrome

M. Indelman, R. Bergman, E. Sprecher, 2006, Clinical and experimental dermatology.

Vici syndrome in Israel: Clinical and molecular insights

H. Mandel, N. Fleischer, B. Pode-Shakked, 2022, Frontiers in Genetics.

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

H. Mandel, A. Shuldiner, J. Overton, 2019, Journal of Human Genetics.

Molecular diagnosis of 405 individuals with autism spectrum disorder

T. Hara, T. Matsuishi, A. Fattal-Valevski, 2023, European journal of human genetics : EJHG.

Experts’ views on COVID‐19 vaccination and the impact of the pandemic on patients with Gaucher disease

C. Niederau, M. Cappellini, A. Kurolap, 2021, British journal of haematology.