E-LIB Suche - Ergebnisse für: Mansour-Hendili, L.

1

Spectre clinique et génétique du syndrome de Bartter de typ..:

Seys, E. ; Andrini, O. ; Mansour-Hendili, L....
Archives de Pédiatrie. 23 (2016) 6 - p. 636 , 2016

2

Deletion ofCPEB1Gene: A Rare but Recurrent Cause of Prematu..:

Hyon, C. ; Mansour-Hendili, L. ; Chantot-Bastaraud, S....
The Journal of Clinical Endocrinology & Metabolism. 101 (2016) 5 - p. 2099-2104 , 2016

Link: https://doi.org/10.1210/..

3

Recurrent "outsider" intronic variation in the SLC5A6 gene ..:

Mansour-Hendili, Lamisse ; Gitiaux, Cyril ; Harion, Madeleine...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

4

Comprehensive in silico and functional studies for classifi..:

Karaghiannis, Valéna ; Maric, Darko ; Garrec, Céline...
Haematologica. 108 (2023) 6 - p. 1652-1666 , 2023

Link: https://doi.org/10.3324/..

5

Characterization of genetic variants in the EGLN1/PHD2 gene..:

Delamare, Marine ; Le Roy, Amandine ; Pacault, Mathilde...
Haematologica. 108 (2023) 11 - p. 3068-3085 , 2023

Link: https://doi.org/10.3324/..

6

Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families..:

Picard, Véronique ; Guitton, Corinne ; Mansour-Hendili, Lamisse...
Frontiers in Physiology. 11 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

7

Les anémies hémolytiques constitutionnelles de causes multi..:

Mansour-Hendili, Lamisse ; Egee, Stéphane ; Tarfi, Sihem...
Transfusion Clinique et Biologique. 28 (2021) 4 - p. S45 , 2021

Link: https://doi.org/10.1016/..

8

Exome sequencing for diagnosis of congenital hemolytic anem..:

Mansour-Hendili, Lamisse ; Aissat, Abdelrazak ; Badaoui, Bouchra...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

9

GermlineSFTPA1mutation in familial idiopathic interstitial ..:

Nathan, Nadia ; Giraud, Violaine ; Picard, Clément...
Human Molecular Genetics. 25 (2016) 8 - p. 1457-1467 , 2016

Link: https://doi.org/10.1093/..

10

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Prim..:

Vargas-Poussou, Rosa ; Mansour-Hendili, Lamisse ; Baron, Stéphanie...
The Journal of Clinical Endocrinology & Metabolism. 101 (2016) 5 - p. 2185-2195 , 2016

Link: https://doi.org/10.1210/..

11

Fanconi syndrome and severe polyuria: an uncommon clinicobi..:

Bouchireb, Karim ; Boyer, Olivia ; Mansour-Hendili, Lamisse...
BMC Pediatrics. 14 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

12

CLCNKB mutations causing mild Bartter syndrome profoundly a..:

Andrini, Olga ; Keck, Mathilde ; L'Hoste, Sébastien...
Pflügers Archiv - European Journal of Physiology. 466 (2013) 9 - p. 1713-1723 , 2013

Link: https://doi.org/10.1007/..

13

Clinical and Genetic Spectrum of Bartter Syndrome Type 3:

Seys, E ; Andrini, O ; Keck, M...
https://discovery.ucl.ac.uk/id/eprint/1571867/1/Bartter%203-MS-20170205%20clean.pdf. , 2017

Link: https://discovery.ucl.ac..

14

Comprehensive in silico and functional studies for classifi..:

Karaghiannis, Valéna ; Maric, Darko ; Garrec, Céline...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10230427/. , 2023

Link: http://www.ncbi.nlm.nih...

15

Characterization of genetic variants in the EGLN1/PHD2 gene..:

Delamare, Marine ; Le Roy, Amandine ; Pacault, Mathilde...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620589/. , 2023

Link: http://www.ncbi.nlm.nih...