Search the collection

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
Author / Creator:Van Gijn, Marielle E ; Ceccherini, Isabella ; Shinar, Yael ; Carbo, Ellen C ; Slofstra, Mariska ; Arostegui, Juan I ; Sarrabay, Guillaume ; Rowczenio, Dorota ; Omoyımnı, Ebun ; Balci-Peynircioglu, Banu ; Hoffman, Hal M ; Milhavet, Florian ; Swertz, Morris A ; Touitou, Isabelle
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-08, Vol.55 (8), p.530-537
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era
Author / Creator:Shinar, Yael ; Ceccherini, Isabella ; Rowczenio, Dorota ; Aksentijevich, Ivona ; Arostegui, Juan ; Ben-Chétrit, Eldad ; Boursier, Guilaine ; Gattorno, Marco ; Hayrapetyan, Hasmik ; Ida, Hiroaki ; Kanazawa, Nobuo ; Lachmann, Helen J ; Mensa-Vilaro, Anna ; Nishikomori, Ryuta ; Oberkanins, Christian ; Obici, Laura ; Ohara, Osamu ; Ozen, Seza ; Sarkisian, Tamara ; Sheils, Katie ; Wolstenholme, Nicola ; Zonneveld-Huijssoon, Evelien ; van Gijn, Marielle E ; Touitou, Isabelle
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2020-04, Vol.66 (4), p.525-536
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Determining the origin of different variants associated with familial mediterranean fever by machine-learning
Author / Creator:Adato, Orit ; Brenner, Ronen ; Levy, Avi ; Shinar, Yael ; Shemer, Asaf ; Dvir, Shalem ; Ben-Zvi, Ilan ; Livneh, Avi ; Unger, Ron ; Kivity, Shaye
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-09, Vol.12 (1), p.15206-15206, Article 15206
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey
Author / Creator:Rowczenio, Dorota ; Shinar, Yael ; Ceccherini, Isabella ; Sheils, Katie ; Van Gijn, Marielle ; Patton, Simon J. ; Touitou, Isabelle
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1502-1508
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
MEFV mutation carriage in Israeli Jewish individuals from ethnicities with low risk for familial Mediterranean fever
Author / Creator:Feld, Olga ; Livneh, Avi ; Shinar, Yael ; Berkun, Yaakov ; Lidar, Merav
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2009-06, Vol.54 (6), p.369-371
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Classification criteria for autoinflammatory recurrent fevers
Author / Creator:Gattorno, Marco ; Hofer, Michael ; Federici, Silvia ; Vanoni, Federica ; Bovis, Francesca ; Aksentijevich, Ivona ; Anton, Jordi ; Arostegui, Juan Ignacio ; Barron, Karyl ; Ben-Cherit, Eldad ; Brogan, Paul A ; Cantarini, Luca ; Ceccherini, Isabella ; De Benedetti, Fabrizio ; Dedeoglu, Fatma ; Demirkaya, Erkan ; Frenkel, Joost ; Goldbach-Mansky, Raphaela ; Gul, Ahmet ; Hentgen, Veronique ; Hoffman, Hal ; Kallinich, Tilmann ; Kone-Paut, Isabelle ; Kuemmerle-Deschner, Jasmin ; Lachmann, Helen J ; Laxer, Ronald M ; Livneh, Avi ; Obici, Laura ; Ozen, Seza ; Rowczenio, Dorota ; Russo, Ricardo ; Shinar, Yael ; Simon, Anna ; Toplak, Nataša ; Touitou, Isabelle ; Uziel, Yosef ; van Gijn, Marielle ; Foell, Dirk ; Garassino, Claudia ; Kastner, Dan ; Martini, Alberto ; Sormani, Maria Pia ; Ruperto, Nicolino
Publisher:England: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2019-08, Vol.78 (8), p.1025-1032
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Marriage
Author / Creator:Shinar, Yael
Publisher:Chapel Hill: University of North Carolina-Chapel Hill, Department of English
Journal title:Carolina quarterly, 2010-07, Vol.60 (2), p.80
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
There's a War in My Country
Author / Creator:Shinar, Yael
Publisher:Chapel Hill: The Carolina Quarterly
Journal title:Carolina quarterly, 2010-06, Vol.60 (2), p.78
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Marriage
Author / Creator:Shinar, Yael
Publisher:The Carolina Quarterly
Journal title:Carolina quarterly, 2010-06, Vol.60 (2), p.80
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis
Author / Creator:Shinar, Yael ; Tohami, Tali ; Livneh, Avi ; Schiby, Ginette ; Hirshberg, Abraham ; Nagar, Meital ; Goldstein, Itamar ; Cohen, Rinat ; Kukuy, Olga ; Shubman, Ora ; Sharabi, Yehonatan ; Gonzalez-Roca, Eva ; Arostegui, Juan I. ; Rechavi, Gideon ; Amariglio, Ninnette ; Salomon, Ophira
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.86-86, Article 86
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
E148Q MEFV mutation carriage and longevity in individuals of Ashkenazi origin
Author / Creator:Lidar, Merav ; Shinar, Yael ; Goldberg, Marina ; Ben-Zvi, Ilan ; Langevitz, Pnina ; Livneh, Avi
Publisher:New York: Springer-Verlag
Journal title:Immunologic research, 2013-07, Vol.56 (2-3), p.371-375
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD)
Author / Creator:Livneh, Avi ; Aksentijevich, Ivona ; Langevitz, Pnina ; Torosyan, Yelizaveta ; G-Shoham, Nitza ; Shinar, Yael ; Pras, Elon ; Zaks, Nurit ; Padeh, Shai ; Kastner, DanielL ; Pras, Mordechai
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2001-03, Vol.9 (3), p.191-196
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesFull Text
Marriage
Author / Creator:Shinar, Yael
Publisher:The Carolina Quarterly
Journal title:Carolina quarterly, 2010-06, Vol.60 (2), p.80
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews
Author / Creator:Ben-Zeev, Bruria ; Levy-Nissenbaum, Etgar ; Lahat, Hadas ; Anikster, Yair ; Shinar, Yael ; Brand, Nathan ; Gross-Tzur, Varda ; MacGregor, Daune ; Sidi, Roy ; Kleta, Robert ; Frydman, Moshe ; Pras, Elon
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2002-08, Vol.111 (2), p.214-218
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Analysis of Allelic Association Between D6S461 Marker and Multiple Sclerosis in Ashkenazi and Iraqi Jewish Patients
Author / Creator:Shinar, Yael ; Pras, Elon ; Siev-Ner, Itzhak ; Gamus, Dorit ; Brautbar, Chaim ; Israel, Shoshana ; Achiron, Anat
Publisher:United States: Springer Nature B.V
Journal title:Journal of molecular neuroscience, 1998-12, Vol.11 (3), p.265-270
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study
Author / Creator:Ben-Chetrit, Eldad ; Gattorno, Marco ; Gul, Ahmet ; Kastner, Daniel L ; Lachmann, Helen J ; Touitou, Isabelle ; Ruperto, Nicolino
Publisher:England: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2018-11, Vol.77 (11), p.1558-1565
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Export record to excel

Export this record

Export record to excel

New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

Export this record

Export record to excel

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

Export this record

Export record to excel

Determining the origin of different variants associated with familial mediterranean fever by machine-learning

Export this record

Export record to excel

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey

Export this record

Export record to excel

MEFV mutation carriage in Israeli Jewish individuals from ethnicities with low risk for familial Mediterranean fever

Export this record

Export record to excel

Classification criteria for autoinflammatory recurrent fevers

Export this record

Export record to excel

Marriage

Export this record

Export record to excel

There's a War in My Country

Export this record

Export record to excel

Marriage

Export this record

Export record to excel

Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis

Export this record

Export record to excel

E148Q MEFV mutation carriage and longevity in individuals of Ashkenazi origin

Export this record

Export record to excel

A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD)

Export this record

Export record to excel

Marriage

Export this record

Export record to excel

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

Export this record

Export record to excel

Analysis of Allelic Association Between D6S461 Marker and Multiple Sclerosis in Ashkenazi and Iraqi Jewish Patients

Export this record

Export record to excel

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

Refine your search