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Clinical Chemistry
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October 27, 2004
In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics
Dimitri Tchernitchko, Michel Goossens, Henri Wajcman
Clinical Genetics
|
March 3, 2025
Limited Diagnostic Utility of PRDM10 Analysis in Birt-Hogg-Dubé Syndrome: Experience in 313 Consecutive Patients
Agathe Hercent, Ibrahima Ba, Dimitri Tchernitchko
The Biochemical Journal
|
April 20, 2002
Expression of the two mRNA isoforms of the iron transporter Nramp2/DMTI in mice and function of the iron responsive element
Dimitri Tchernitchko, Monique Bourgeois, Marie-Elise Martin, et al.
Human Mutation
|
September 5, 2003
The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever
Dimitri Tchernitchko, Marie Legendre, Cécile Cazeneuve, et al.
European Journal of Human Genetics : EJHG
|
December 9, 2004
Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations
Dimitri Tchernitchko, Mihelaiti Chiminqgi, Frédéric Galactéros, et al.
Journal of Medical Genetics
|
October 26, 2024
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome
Florence Petit, Louise Devisme, Dimitri Tchernitchko, et al.
Clinical and Experimental Dermatology
|
May 20, 2024
Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients
Agathe Hercent, Rizk Bennani, Philippe Lafitte, et al.
Kidney International
|
April 26, 2013
Hepcidin regulates intrarenal iron handling at the distal nephron
Boualem Moulouel, Dounia Houamel, Constance Delaby, et al.
HGG Advances
|
July 23, 2024
The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype
Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, et al.
Blood Advances
|
November 1, 2021
ABCB6 polymorphisms are not overly represented in patients with porphyria
Colin P Farrell, Gäel Nicolas, Robert J Desnick, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Clinical Chemistry
|
October 27, 2004
In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics
Dimitri Tchernitchko, Michel Goossens, Henri Wajcman
Clinical Genetics
|
March 3, 2025
Limited Diagnostic Utility of PRDM10 Analysis in Birt-Hogg-Dubé Syndrome: Experience in 313 Consecutive Patients
Agathe Hercent, Ibrahima Ba, Dimitri Tchernitchko
The Biochemical Journal
|
April 20, 2002
Expression of the two mRNA isoforms of the iron transporter Nramp2/DMTI in mice and function of the iron responsive element
Dimitri Tchernitchko, Monique Bourgeois, Marie-Elise Martin, et al.
Human Mutation
|
September 5, 2003
The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever
Dimitri Tchernitchko, Marie Legendre, Cécile Cazeneuve, et al.
European Journal of Human Genetics : EJHG
|
December 9, 2004
Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations
Dimitri Tchernitchko, Mihelaiti Chiminqgi, Frédéric Galactéros, et al.
Journal of Medical Genetics
|
October 26, 2024
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome
Florence Petit, Louise Devisme, Dimitri Tchernitchko, et al.
Clinical and Experimental Dermatology
|
May 20, 2024
Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients
Agathe Hercent, Rizk Bennani, Philippe Lafitte, et al.
Kidney International
|
April 26, 2013
Hepcidin regulates intrarenal iron handling at the distal nephron
Boualem Moulouel, Dounia Houamel, Constance Delaby, et al.
HGG Advances
|
July 23, 2024
The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype
Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, et al.
Blood Advances
|
November 1, 2021
ABCB6 polymorphisms are not overly represented in patients with porphyria
Colin P Farrell, Gäel Nicolas, Robert J Desnick, et al.
Page
of 2