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1 . Academic Journal
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
저자
by
Jouanolle, Anne-Marie
;
Douabin-Gicquel, Véronique
;
Halimi, Chantal
;
Loréal, Olivier
;
Fergelot, Patricia
, et al.
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Journal of Hepatology
2003 39(2):286-289
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7 . Academic Journal
JAK2 allele burden is correlated with a risk of venous but not arterial thrombosis.
저자
by
Soudet, Simon
;
Le Roy, Gaelle
;
Cadet, Estelle
;
Michaud, Audrey
;
Morel, Pierre
, et al.
소스
Thrombosis Research
. Mar2022, Vol. 211, p1-5. 5p.
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7 . Academic Journal
New intragenic rearrangements in non‐Finnish mulibrey nanism
저자
by
Jobic, Florence
;
Morin, Gilles
;
Vincent‐Delorme, Catherine
;
Cadet, Estelle
;
Cabry, Rosalie
, et al.
소스
American Journal of Medical Genetics Part A
. Oct 01, 2017 173(10):2782-2788
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7 . Academic Journal
Identification of a Point Mutation in Position – 83 (G>A) of the β Globin Gene Promoter and the Influence of Globin Genes Mutation on the HbA2 Level
저자
by
Cadet, Estelle
;
Foulon, Karine
;
Claisse, Jean-Francois
;
Rochette, Jacques
.
소스
In
Blood
16 November 2008 112(11):5422-5422
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6 . Academic Journal
Clinical Features for Heterozygosity of the Common β Globin Gene Frameshift 41/42 Mutation: Identification and Properties of Hb Salouël (β[Phe41Leu;Val59X])
저자
by
Rochette, Jacques
;
Cadet, Estelle
;
Boitte, Francis
;
Esper, Najeh El
;
Presne, Claire
, et al.
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In
Blood
16 November 2008 112(11):4794-4794
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7 . Academic Journal
A New Intergenic α -Globin Deletion ( α – α ) Found in a Kabyle Population.
저자
by
Rabbind Singh, Amrathlal
;
Lacan, Philippe
;
Cadet, Estelle
;
Bignet, Patricia
;
Dumesnil, Cécile
, et al.
소스
Hemoglobin
. Mar2016, Vol. 40 Issue 2, p108-112. 5p.
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7 . Academic Journal
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients
저자
by
Callebaut, Isabelle
;
Joubrel, Rozenn
;
Pissard, Serge
;
Kannengiesser, Caroline
;
Gérolami, Victoria
, et al.
소스
Human Molecular Genetics
. Sep 01, 2014 23(17):4479-4490
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7 . Academic Journal
Evaluation of Inherited Prothrombotic Risk Factors in Children with Acute Lymphoblastic Leukemia.
저자
by
Te, Valerie Li Thiao
;
Favier, Remi
;
Borg, Jeanne-Yvonne
;
Cadet, Estelle
;
Reynaud, Jacqueline
, et al.
소스
In
Blood
16 November 2007 110(11):3953-3953
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7 . Academic Journal
Transient aplastic crisis as presentation of a previously unknown G6PD deficiency with iron overload
저자
by
Green, Laura
;
De Lord, Corinne
;
Clark, Barnaby
;
Cadet, Estelle
;
Rochette, Jacques
, et al.
소스
British Journal of Haematology
. Aug 01, 2011 154(3):288-288
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7 . Academic Journal
An Unusual Case of Hemochromatosis Due to A New Compound Heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): Structural Implications with Respect to Binding with Transferrin Receptor 1
저자
by
Dupradeau, François-Yves
;
Pissard, Serge
;
Coulhon, Marie-Pierre
;
Cadet, Estelle
;
Foulon, Karine
, et al.
소스
Human Mutation
. Jan 01, 2008 29(1):206-206
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