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Author Details
Full Name
Ifat Bar-Joseph
Affiliation
The Center for Cancer Research-Sheba Medical Center
ORCID
Career Start Year
2001
Papers
18
H Index
13
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36226497
Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of <i>THPO</i> as a novel mechanism of congenital amegakaryocytic thrombocytopenia.
Haematologica
2023
34798323
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.
Eur J Med Genet
2022
35433545
Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental Delay.
Front Pediatr
2022
34993602
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Pediatr Nephrol
2022
34580403
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Sci Rep
2021
31217582
Noncoding deletions reveal a gene that is critical for intestinal function.
Nature
2019
24139043
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Neuron
2013
22825317
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
Hum Genet
2012
23176824
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Am J Hum Genet
2012
20506103
Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.
Arthritis Care Res (Hoboken)
2010
19820229
Is E148Q a benign polymorphism or a disease-causing mutation?
J Rheumatol
2009
17483337
Angiopoietin-2 stimulates breast cancer metastasis through the alpha(5)beta(1) integrin-mediated pathway.
Cancer Res
2007
17671188
ELMO1 and Dock180, a bipartite Rac1 guanine nucleotide exchange factor, promote human glioma cell invasion.
Cancer Res
2007
17369861
Neuropilin-1 promotes human glioma progression through potentiating the activity of the HGF/SF autocrine pathway.
Oncogene
2007
16391787
Estradiol and nicotine exposure enhances A549 bronchioloalveolar carcinoma xenograft growth in mice through the stimulation of angiogenesis.
Int J Oncol
2006
12597857
The formation of highly soluble oligomers of alpha-synuclein is regulated by fatty acids and enhanced in Parkinson's disease.
Neuron
2003
14507911
Altered fatty acid composition of dopaminergic neurons expressing alpha-synuclein and human brains with alpha-synucleinopathies.
J Biol Chem
2003
11481478
alpha-Synuclein occurs in lipid-rich high molecular weight complexes, binds fatty acids, and shows homology to the fatty acid-binding proteins.
Proc Natl Acad Sci U S A
2001
1 - 18 of 18
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