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Dimitri Tchernitchko

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Clinical Chemistry|October 27, 2004
In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical geneticsDimitri 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 PatientsAgathe 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 elementDimitri 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 feverDimitri 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 populationsDimitri Tchernitchko, Mihelaiti Chiminqgi, Frédéric Galactéros, et al.
Journal of Medical Genetics|October 26, 2024
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndromeFlorence 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 patientsAgathe Hercent, Rizk Bennani, Philippe Lafitte, et al.
Kidney International|April 26, 2013
Hepcidin regulates intrarenal iron handling at the distal nephronBoualem 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 phenotypeKevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, et al.
Blood Advances|November 1, 2021
ABCB6 polymorphisms are not overly represented in patients with porphyriaColin P Farrell, Gäel Nicolas, Robert J Desnick, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Clinical Chemistry|October 27, 2004
In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical geneticsDimitri 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 PatientsAgathe 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 elementDimitri 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 feverDimitri 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 populationsDimitri Tchernitchko, Mihelaiti Chiminqgi, Frédéric Galactéros, et al.
Journal of Medical Genetics|October 26, 2024
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndromeFlorence 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 patientsAgathe Hercent, Rizk Bennani, Philippe Lafitte, et al.
Kidney International|April 26, 2013
Hepcidin regulates intrarenal iron handling at the distal nephronBoualem 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 phenotypeKevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, et al.
Blood Advances|November 1, 2021
ABCB6 polymorphisms are not overly represented in patients with porphyriaColin P Farrell, Gäel Nicolas, Robert J Desnick, et al.
Pageof 2