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1 . Academic Journal
Exome sequencing for diagnosis of congenital hemolytic anemia
저자
by
Lamisse Mansour-Hendili
;
Abdelrazak Aissat
;
Bouchra Badaoui
;
Mehdi Sakka
;
Christine Gameiro
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)
Open Access (BioMed Central)
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7 . Academic Journal
Acute rhabdomyolysis
저자
by
Pascale de Lonlay
;
Asmaa Mamoune
;
Yamina Hamel
;
Michel Bahuau
;
Sabrina Vergnaud
, et al.
소스
Нервно-мышечные болезни, Vol 5, Iss 1, Pp 10-18 (2015)
Open Access (DOAJ)
Find it @ DONGA
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7 . Academic Journal
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
저자
by
Asmaa Mamoune
;
Michel Bahuau
;
Yamina Hamel
;
Valérie Serre
;
Michele Pelosi
, et al.
소스
PLoS Genetics, Vol 10, Iss 11, p e1004711 (2014)
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7 . Academic Journal
Chronic hemolytic anemia due to novel α-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect
저자
by
Claude Préhu
;
Kamran Moradkhani
;
Jean Riou
;
Michel Bahuau
;
Pierre Launay
, et al.
소스
Haematologica, Vol 94, Iss 11 (2009)
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7 .
Author response for 'Further delineation of the NTHL1 associated syndrome: a report from the French oncogenetic consortium'
저자
by
Vincent Goussot
;
Véronica Cusin
;
Flavie Boulouard
;
Nancy Uhrhammer
;
Jacques Mauillon
, et al.
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7 .
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium
저자
by
Thierry Frebourg
;
Gwendoline Lienard
;
Stéphanie Baert-Desurmont
;
Camille Tlemsani
;
Nadim Hamzaoui
, et al.
소스
Clinical geneticsREFERENCES
. 99(5)
Scopus
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7 .
Exome sequencing for diagnosis of congenital hemolytic anemia
저자
by
Abdelrazak Aissat
;
Marc Michel
;
Corinne Guitton
;
Michel Bahuau
;
Benoît Funalot
, et al.
소스
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)
Open Access (BioMed Central)
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7 .
Pyrimidine 5’-nucleotidase deficiency associated to a polymalformative syndrome
저자
by
Lydie Da Costa
;
Fanny Fouyssac
;
Michel Bahuau
;
Lucille Altounian
;
Bruno Leheup
, et al.
소스
Annales de biologie clinique
. 73:587-590
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7 .
A rare G6PD variant (c.383T > G; p.128Leu > Arg) with a molecular pathophysiological mechanism similar to that of G6PD A− (68Val > Met, 126Asn > Asp)
저자
by
Claude Préhu
;
Kamran Moradkhani
;
Michel Bahuau
;
Catherine Bimet
;
Frédéric Galactéros
, et al.
소스
Blood Cells, Molecules, and Diseases
. 43:226-229
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7 .
Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft
저자
by
Agnès Nelva
;
Christine Francannet
;
Sylvaine Cordier
;
Elisabeth Robert-Gnansia
;
Claire Perret
, et al.
소스
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2008, 146A (18), pp.2396-406. ⟨10.1002/ajmg.a.32505⟩
American Journal of Medical Genetics Part A, Wiley, 2008, 146A (18), pp.2396-406. ⟨10.1002/ajmg.a.32505⟩
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