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Journal of Medical Genetics
|
June 11, 2011
NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage
Christiane Messaed, Wafaa Chebaro, Raphael B Di Roberto, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
June 9, 2020
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis
Valentin Ruault, Kevin Yauy, Aurélie Fabre, et al.
Annals of the Rheumatic Diseases
|
December 15, 2016
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (<i>NLRP1-</i>associated autoinflammation with arthritis and dyskeratosis)
Sylvie Grandemange, Elodie Sanchez, Pascale Louis-Plence, et al.
European Journal of Human Genetics : EJHG
|
September 16, 2016
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions
Ramesh Reddy, Ngoc M P Nguyen, Guillaume Sarrabay, et al.
American Journal of Human Genetics
|
September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte
David A Parry, Clare V Logan, Bruce E Hayward, et al.
European Journal of Human Genetics : EJHG
|
March 10, 2016
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions
Ramesh Reddy, Ngoc M P Nguyen, Guillaume Sarrabay, et al.
European Journal of Human Genetics : EJHG
|
April 24, 2018
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Mélanie Rama, Claire Duflos, Isabelle Melki, et al.
Annals of the Rheumatic Diseases
|
March 2, 2012
An international registry on autoinflammatory diseases: the Eurofever experience
Natasa Toplak, Joost Frenkel, Seza Ozen, et al.
Clinical Chemistry
|
March 17, 2020
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era
Yael Shinar, Isabella Ceccherini, Dorota Rowczenio, et al.
Annals of the Rheumatic Diseases
|
July 4, 2012
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review
Nienke Ter Haar, Helen Lachmann, Seza Özen, et al.
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of 13
Search research articles
Search
Showing results (101-110 of 121) with videos related to
Sort By:
Page
of 13
Journal of Medical Genetics
|
June 11, 2011
NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage
Christiane Messaed, Wafaa Chebaro, Raphael B Di Roberto, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
June 9, 2020
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis
Valentin Ruault, Kevin Yauy, Aurélie Fabre, et al.
Annals of the Rheumatic Diseases
|
December 15, 2016
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (<i>NLRP1-</i>associated autoinflammation with arthritis and dyskeratosis)
Sylvie Grandemange, Elodie Sanchez, Pascale Louis-Plence, et al.
European Journal of Human Genetics : EJHG
|
September 16, 2016
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions
Ramesh Reddy, Ngoc M P Nguyen, Guillaume Sarrabay, et al.
American Journal of Human Genetics
|
September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte
David A Parry, Clare V Logan, Bruce E Hayward, et al.
European Journal of Human Genetics : EJHG
|
March 10, 2016
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions
Ramesh Reddy, Ngoc M P Nguyen, Guillaume Sarrabay, et al.
European Journal of Human Genetics : EJHG
|
April 24, 2018
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Mélanie Rama, Claire Duflos, Isabelle Melki, et al.
Annals of the Rheumatic Diseases
|
March 2, 2012
An international registry on autoinflammatory diseases: the Eurofever experience
Natasa Toplak, Joost Frenkel, Seza Ozen, et al.
Clinical Chemistry
|
March 17, 2020
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era
Yael Shinar, Isabella Ceccherini, Dorota Rowczenio, et al.
Annals of the Rheumatic Diseases
|
July 4, 2012
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review
Nienke Ter Haar, Helen Lachmann, Seza Özen, et al.
Page
of 13