Nitzan Kol

Nitzan Kol

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Nitzan Kol

Nitzan Kol

Publications by authors named "Nitzan Kol"

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Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.

Eur J Med Genet 2019 Mar 10;62(3):167-171. Epub 2018 Jul 10.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.004DOI Listing
March 2019

Abdominal muscle weakness as a presenting symptom in GNE myopathy.

J Clin Neurosci 2019 Jan 3;59:316-317. Epub 2018 Nov 3.

Department of Neurology, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09675868183100
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http://dx.doi.org/10.1016/j.jocn.2018.10.122DOI Listing
January 2019

Nm-seq maps 2'-O-methylation sites in human mRNA with base precision.

Nat Methods 2017 Jul 15;14(7):695-698. Epub 2017 May 15.

Department of Chemistry, The University of Chicago, Chicago, Illinois, USA.

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http://dx.doi.org/10.1038/nmeth.4294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5712428PMC
July 2017

Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.

J Pediatr Gastroenterol Nutr 2017 05;64(5):770-776

*Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel †Cincinnati Children's Hospital Medical Center, Cincinnati, OH ‡Cancer Research Center §Institute of Pathology, Sheba Medical Center, Tel Hashomer ||Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv ¶Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1097/MPG.0000000000001424DOI Listing
May 2017

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

J Clin Immunol 2016 11 12;36(8):801-809. Epub 2016 Oct 12.

Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.

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http://link.springer.com/10.1007/s10875-016-0340-z
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http://dx.doi.org/10.1007/s10875-016-0340-zDOI Listing
November 2016

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

J Exp Med 2016 07 18;213(8):1429-40. Epub 2016 Jul 18.

Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel

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http://dx.doi.org/10.1084/jem.20151618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986528PMC
July 2016

Promoter-Associated RNAs Regulate HSPC152 Gene Expression in Malignant Melanoma.

Noncoding RNA 2016 Jun 30;2(3). Epub 2016 Jun 30.

Laboratory of Molecular Cell Biology, Centre for Cancer Research and Department of Medicine C, Chaim Sheba Medical Centre, Tel-Hashomer 52621, Israel.

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http://dx.doi.org/10.3390/ncrna2030007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5831909PMC
June 2016

Assembly algorithms for deep sequencing data: basics and pitfalls.

Methods Mol Biol 2013 ;1038:81-91

Functional Genomics Laboratory, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/978-1-62703-514-9_5DOI Listing
February 2014

Virion stiffness regulates immature HIV-1 entry.

Retrovirology 2013 Jan 10;10. Epub 2013 Jan 10.

Department of Biochemistry, University of Utah School of Medicine, Salt Lake City, UT 84112-5650, USA.

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http://dx.doi.org/10.1186/1742-4690-10-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564805PMC
January 2013

Self-assembled organic nanostructures with metallic-like stiffness.

Angew Chem Int Ed Engl 2010 Dec;49(51):9939-42

Department of Molecular Microbiology and Biotechnology, George S. Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv 69978, Israel.

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http://dx.doi.org/10.1002/anie.201002037DOI Listing
December 2010

The effect of purification method on the completeness of the immature HIV-1 Gag shell.

J Virol Methods 2010 Oct 4;169(1):244-7. Epub 2010 Aug 4.

Department of Structural Biology, Weizmann Institute of Science, Rehovot 76100, Israel.

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http://dx.doi.org/10.1016/j.jviromet.2010.07.035DOI Listing
October 2010

A stiffness switch in human immunodeficiency virus.

Biophys J 2007 Mar 8;92(5):1777-83. Epub 2006 Dec 8.

Department of Structural Biology, Weizmann Institute of Science, Rehovot 76100, Israel.

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http://dx.doi.org/10.1529/biophysj.106.093914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1796819PMC
March 2007

Self-assembled peptide nanotubes are uniquely rigid bioinspired supramolecular structures.

Nano Lett 2005 Jul;5(7):1343-6

Department of Structural Biology, Weizmann Institute of Science, Rehovot 76100, Israel.

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July 2005