M. Daana

发表

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

T. Harel, Y. Nevo, O. Elpeleg, 2019, European Journal of Human Genetics.

Vaccine escape of piliated Streptococcus pneumoniae strains.

A. Huppert, Z. Abdeen, G. Rahav, 2016, Vaccine.

Symptomatic Myocardial Bridging in a Child Without Hypertrophic Cardiomyopathy

A. Rein, E. Milgalter, Z. Perles, 2006, Pediatrics.

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features

T. Harel, S. Edvardson, O. Elpeleg, 2019, neurogenetics.

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

T. Harel, Y. Nevo, O. Elpeleg, 2019, European Journal of Human Genetics.

Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.

O. Elpeleg, S. Bhat, J. Heng, 2016, Human molecular genetics.

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

T. Harel, V. Meiner, O. Elpeleg, 2019, European Journal of Human Genetics.

Development of a model‐based clinical trial simulation platform to optimize the design of clinical trials for Duchenne muscular dystrophy

A. Pestronk, A. Nicorici, J. Florence, 2021, CPT: pharmacometrics & systems pharmacology.

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

Y. Nevo, T. Dor, S. Treves, 2013, PloS one.

Measuring the effects of pneumococcal conjugate vaccine (PCV7) on Streptococcus pneumoniae carriage and antibiotic resistance: the Palestinian-Israeli Collaborative Research (PICR).

A. Huppert, Z. Abdeen, G. Rahav, 2015, Vaccine.

Varied utilisation of health provision by Arab and Jewish residents in Israel

G. Rahav, M. Raz, G. Regev-Yochay, 2015, International Journal for Equity in Health.

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

Y. Shapira, A. Engel, N. Orenstein, 2015, Neuromuscular Disorders.

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

P. Nürnberg, J. Altmüller, Yun Li, 2021, Journal of Medical Genetics.

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

P. Schlattmann, K. Kaila, F. Alkuraya, 2023, Brain : a journal of neurology.

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

T. Harel, V. Meiner, O. Elpeleg, 2019, European Journal of Human Genetics.

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features

T. Harel, S. Edvardson, O. Elpeleg, 2019, neurogenetics.

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

R. Pfundt, B. Cogné, T. Harel, 2024, Life Science Alliance.