Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 5, p. 448, doi. 10.1111/cge.12428
- By:
- Publication type:
- Article
Works matching AU Saint-Martin, C
Results: 20
1
2
Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies.
- Published in:
- 2010
- By:
- Publication type:
- Journal Article
3
Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies C. Carette et al. Rare HNF1A/4A molecular events in familial young-onset diabetes.
- Published in:
- Diabetic Medicine, 2010, v. 27, n. 12, p. 1454, doi. 10.1111/j.1464-5491.2010.03115.x
- By:
- Publication type:
- Article
4
Gastric cystic duplication communicating with a bifid pancreas: a rare cause of recurrent pancreatis.
- Published in:
- 1998
- By:
- Publication type:
- journal article
5
Postcricoid hemangioma: an overlooked cause of dysphagia in infants?-a case report.
- Published in:
- 2004
- By:
- Publication type:
- journal article
6
Cerebral venous sinus thrombosis in children: risk factors, presentation, diagnosis and outcome.
- Published in:
- 2005
- By:
- Publication type:
- Journal Article
7
Cerebral venous sinus thrombosis in children: risk factors, presentation, diagnosis and outcome.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 3, p. 477, doi. 10.1093/brain/awh412
- By:
- Publication type:
- Article
8
Coarctation of the aorta: pre and postoperative evaluation with MRI and MR angiography; correlation with echocardiography and surgery.
- Published in:
- International Journal of Cardiovascular Imaging, 2006, v. 22, n. 3/4, p. 457
- By:
- Publication type:
- Article
9
Diverse Genetic Mechanisms Operate to Generate Atypical β<sup>s</sup> Haplotypes in the Population of Guadeloupe.
- Published in:
- Hemoglobin, 2000, v. 24, n. 2, p. 77, doi. 10.3109/03630260009003426
- By:
- Publication type:
- Article
10
Hemoglobin Sickle-Lepore: An Unusual Case of Sickle Cell Disease.
- Published in:
- Acta Haematologica, 1997, v. 98, n. 3, p. 170, doi. 10.1159/000203615
- By:
- Publication type:
- Article
11
Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction.
- Published in:
- 2009
- By:
- Publication type:
- Letter
12
Treatment-Related Morbidity in Atypical Teratoid/Rhabdoid Tumor: Multifocal Necrotizing Leukoencephalopathy.
- Published in:
- Pediatric Neurosurgery, 2011, v. 47, n. 1, p. 7, doi. 10.1159/000323412
- By:
- Publication type:
- Article
13
Long-term survival in HER2-positive metastatic breast cancer treated with first-line trastuzumab: results from the french real-life curie database.
- Published in:
- Breast Cancer Research & Treatment, 2019, v. 178, n. 3, p. 505, doi. 10.1007/s10549-019-05423-5
- By:
- Publication type:
- Article
14
Sickle cell disorder, β-globin gene cluster haplotypes and α-thalassemia in neonates and adults from Guadeloupe.
- Published in:
- American Journal of Hematology, 1997, v. 55, n. 1, p. 24, doi. 10.1002/(SICI)1096-8652(199705)55:1<24::AID-AJH4>3.0.CO;2-5
- By:
- Publication type:
- Article
15
Molecular characterization of β-thalassemia mutations in Guadeloupe.
- Published in:
- American Journal of Hematology, 1996, v. 53, n. 4, p. 228, doi. 10.1002/(SICI)1096-8652(199612)53:4<228::AID-AJH3>3.0.CO;2-#
- By:
- Publication type:
- Article
16
P.147 Evaluation of Arterial Spin Labeling (ASL) perfusion imaging in poorly- defined focal epilepsy in children.
- Published in:
- 2022
- By:
- Publication type:
- Abstract
17
P.205 Association Between Vein of Galen Aneurysmal Malformation and Hirayama Disease: A Clue into Pathophysiology?
- Published in:
- 2021
- By:
- Publication type:
- Abstract
18
P.173 Evaluation of Arterial Spin Labeling (ASL) Perfusion Imaging in Poorly-Defined Focal Epilepsy in Children.
- Published in:
- 2021
- By:
- Publication type:
- Abstract
19
P.205 Association Between Vein of Galen Aneurysmal Malformation and Hirayama Disease: A Clue into Pathophysiology?
- Published in:
- 2021
- By:
- Publication type:
- Abstract
20
P.173 Evaluation of Arterial Spin Labeling (ASL) Perfusion Imaging in Poorly-Defined Focal Epilepsy in Children.
- Published in:
- 2021
- By:
- Publication type:
- Abstract