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1 . Academic Journal
Intragenic deletions in SPTB are associated with hereditary spherocytosis: Series of 12 cases.
저자
by
Evrard, Ophélie
;
Billes, Alexis
;
Badens, Catherine
;
Cadet, Estelle
;
Mansour‐Hendili, Lamisse
, et al.
소스
British Journal of Haematology
. Aug2024, p1. 5p. 1 Illustration.
Full Text (Wiley)
Web of Science
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7 . Academic Journal
Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?
저자
by
Nguyen, Alexandre
;
Deshayes, Samuel
;
Nowoczyn, Marie
;
Imbard, Apolline
;
Mansour-Hendili, Lamisse
, et al.
소스
Journal of Inherited Metabolic Disease Reports; May2024, Vol. 65 Issue 3, p163-170, 8p
Open Access (Wiley)
Scopus
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7 . Academic Journal
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
저자
by
Mansour-Hendili, Lamisse
;
Gitiaux, Cyril
;
Harion, Madeleine
;
Latouche, Céline
;
Heron, Bénédicte
, et al.
소스
Frontiers in Genetics; 2024, p1-7, 7p
Web of Science
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7 . Academic Journal
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
저자
by
Lunati‐Rozie, Ariane
;
Janin, Alexandre
;
Faubert, Emmanuelle
;
Nony, Severine
;
Renoux, Céline
, et al.
소스
British Journal of Haematology
. May2023, Vol. 201 Issue 4, pe46-e49. 4p.
Full Text (Wiley)
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7 . Academic Journal
In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis
저자
by
Karaghiannis, Valéna
;
Maric, Darko
;
Garrec, Céline
;
Maaziz, Nada
;
Buffet, Alexandre
, et al.
소스
In
Blood
15 November 2022 140 Supplement 1:8157-8158
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7 . Academic Journal
Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.
저자
by
Mansour‐Hendili, Lamisse
;
Flamarion, Edouard
;
Michel, Marc
;
Morbieu, Caroline
;
Gameiro, Christine
, et al.
소스
American Journal of Hematology; Aug2022, Vol. 97 Issue 8, pE285-E288, 4p
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7 . Academic Journal
Les anémies hémolytiques constitutionnelles de causes multiples dévoilées par le séquençage haut-débit
저자
by
Mansour-Hendili, Lamisse
;
Egee, Stéphane
;
Tarfi, Sihem
;
Badaoui, Bouchra
;
De Luna, Gonzalo
, et al.
소스
In
Transfusion clinique et biologique
November 2021 28(4) Supplement:S45-S45
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7 . Academic Journal
Connecting the dots: Xanthoma, haemolytic anaemia, stomatocytosis and macrothrombocytopenia point to phytosterolaemia.
저자
by
Rieu, Jean‐Baptiste
;
Jamme, Thibaut
;
Astudillo, Léonardo
;
Mansour‐Hendili, Lamisse
;
Levade, Thierry
, et al.
소스
EJHaem; Nov2023, Vol. 4 Issue 4, p1166-1167, 2p
Find it @ DONGA
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7 . Academic Journal
Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation.
저자
by
Mansour‐Hendili, Lamisse
;
Egée, Stéphane
;
Monedero‐Alonso, David
;
Bouyer, Guillaume
;
Godeau, Bertrand
, et al.
소스
American Journal of Hematology; Sep2021, Vol. 96 Issue 9, pE318-E321, 4p
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7 . Academic Journal
Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices.
저자
by
Picard, Véronique
;
Guitton, Corinne
;
Mansour-Hendili, Lamisse
;
Jondeau, Bernard
;
Bendélac, Laurence
, et al.
소스
Frontiers in Physiology; 1/14/2021, pN.PAG-N.PAG, 5p
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