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1 . Academic Journal
Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins.
저자
by
Telehuz, Daniela
;
Plesa, Oana
;
Bouilloud, Florence
;
Wucher, Helene
;
De Lonlay, Pascale
, et al.
소스
Frontiers in Endocrinology; 2024, p1-6, 6p
Scopus
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7 . Academic Journal
Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for?
저자
by
Timsit, José
;
Saint-Martin, Cécile
;
Dubois-Laforgue, Danièle
;
Bellanné-Chantelot, Christine
.
소스
In
Canadian Journal of Diabetes
October 2016 40(5):455-461
Full Text (Clinical Key)
Full Text (ScienceDirect)
Scopus
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6 . Academic Journal
Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors
저자
by
Marty, Caroline
;
Saint-Martin, Cécile
;
Pecquet, Christian
;
Grosjean, Sarah
;
Saliba, Joseph
, et al.
소스
In
Blood
27 February 2014 123(9):1372-1383
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications
저자
by
Malak, Sandra
;
Labopin, Myriam
;
Saint-Martin, Cecile
;
Bellanne-Chantelot, Christine
;
Najman, Albert
.
소스
In
Blood Cells, Molecules and Diseases
15 October-15 December 2012 49(3-4):170-176
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7 . Periodical
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
저자
by
Tobias, Deirdre K.
;
Merino, Jordi
;
Ahmad, Abrar
;
Aiken, Catherine
;
Benham, Jamie L.
, et al.
소스
Nature Medicine; October 2023, Vol. 29 Issue: 10 p2438-2457, 20p
Full Text (Nature)
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7 . Academic Journal
Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.
저자
by
Bouvet, Delphine
;
Blondel, Amélie
;
de Sainte Agathe, Jean-Madeleine
;
Leroy, Gwendoline
;
Saint-Martin, Cécile
, et al.
소스
Human Mutation; 8/31/2023, p1-13, 13p
Open Access (Wiley)
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7 . Periodical
Congenital mirror movements are associated with defective polymerisation of RAD51
저자
by
Trouillard, Oriane
;
Dupaigne, Pauline
;
Dunoyer, Margaux
;
Doulazmi, Mohamed
;
Herlin, Morten Krogh
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 11 p1116-1126, 11p
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7 . Academic Journal
Glucocorticoid-Induced Hyperinsulinism in a Preterm Neonate with Inherited ABCC8 Variant.
저자
by
Motte-Signoret, Emmanuelle
;
Saint-Martin, Cécile
;
Bellané-Chantelot, Christine
;
Portha, Bernard
;
Boileau, Pascal
.
소스
Metabolites (2218-1989); Sep2022, Vol. 12 Issue 9, p847-N.PAG, 6p
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7 . Academic Journal
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion
저자
by
Murphy, Rinki
;
Colclough, Kevin
;
Pollin, Toni I.
;
Ikle, Jennifer M.
;
Svalastoga, Pernille
, et al.
소스
Communications Medicine
. 3(1)
Web of Science
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7 . Academic Journal
Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.
저자
by
Saint-Martin, Cécile
;
Bouvet, Delphine
;
Bastide, Mathilda
;
Bellanné-Chantelot, Christine
.
소스
Diabetes
. Mar2022, Vol. 71 Issue 3, p578-584. 7p.
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