E-LIB Suche - Ergebnisse für: Badens, C.

1

Dunnigan lipodystrophy syndrome: French National Diagnosis ..:

Mosbah, H. ; Donadille, B. ; Vatier, C....
Orphanet Journal of Rare Diseases. 17 (2022) S1 - p. , 2022

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

2

Mutations in NBAS and SCYL1, genetic causes of recurrent li..:

Chavany, J. ; Cano, A. ; Roquelaure, B....
Archives de Pédiatrie. 27 (2020) 3 - p. 155-159 , 2020

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

3

PRO58 CLINICAL AND ECONOMIC BURDEN OF TRANSFUSION-DEPENDENT..:

Brousse, V. ; Badens, C. ; Quignot, N....
Value in Health. 22 (2019) - p. S851 , 2019

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

4

Primary red cell hydration disorders: Pathogenesis and diag..:

Caulier, A. ; Rapetti‐Mauss, R. ; Guizouarn, H....
International Journal of Laboratory Hematology. 40 (2018) S1 - p. 68-73 , 2018

Link: https://doi.org/10.1111/..

5

In utero seizures revealing dentato-olivary dysplasia cause..:

Sauvestre, F. ; Moutton, S. ; Badens, C....
Neuropathology and Applied Neurobiology. 43 (2017) 7 - p. 631-635 , 2017

Link: https://doi.org/10.1111/..

6

Mutations of codon 2085 in the helicase domain of ATRX are ..:

Lacoste, C. ; Leheup, B. ; Agouti, I....
Clinical Genetics. 86 (2013) 5 - p. 502-503 , 2013

Link: https://doi.org/10.1111/..

7

Analytical evaluation of the Capillarys 2 Flex piercing for..:

Agouti, I. ; Merono, F. ; Bonello‐Palot, N..
International Journal of Laboratory Hematology. 35 (2012) 2 - p. 217-221 , 2012

Link: https://doi.org/10.1111/..

8

OFD1 mutations in males: phenotypic spectrum and ciliary ba..:

Thauvin‐Robinet, C ; Thomas, S ; Sinico, M...
Clinical Genetics. 84 (2012) 1 - p. 86-90 , 2012

Link: https://doi.org/10.1111/..

9

Molecular screening of MECP2 gene in a cohort of Lebanese p..:

Corbani, S. ; Chouery, E. ; Fayyad, J....
Journal of Intellectual Disability Research. 56 (2011) 4 - p. 415-420 , 2011

Link: https://doi.org/10.1111/..

10

B013 Genetic polymorphisms of the lamina maturation pathway..:

Fontaine-Bisson, B. ; Alessi, M.-C. ; Saut, N....
Archives of Cardiovascular Diseases. 102 (2009) - p. S25 , 2009

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

11

The clinical variability of the MECP2 duplication syndrome:..:

Kirk, EP ; Malaty‐Brevaud, V ; Martini, N...
Clinical Genetics. 75 (2009) 3 - p. 301-303 , 2009

Link: https://doi.org/10.1111/..

12

Mutations in PHD‐like domain of the ATRX gene correlate wit..:

Badens, C ; Lacoste, C ; Philip, N...
Clinical Genetics. 70 (2006) 1 - p. 57-62 , 2006

Link: https://doi.org/10.1111/..

13

P.I.3 Recent advances in defective prelamin A associated sy..:

Navarro, C.L. ; DeSandre-Giovannoli, A. ; Boccaccio, I....
Neuromuscular Disorders. 16 (2006) 9-10 - p. 682 , 2006

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

14

Iron overload in thalassaemias and genetic haemochromatosis:

Aguilar‐Martinez, P. ; Schved, J. F. ; Badens, C....
European Journal of Haematology. 64 (2000) 4 - p. 279-280 , 2000

Link: https://doi.org/10.1034/..

15

P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT ..:

Coralea Stephanou, C ; Petros Kountouris, P ; Carsten W Lederer, C...
HemaSphere. 6 (2022) - p. 34-35 , 2022

Link: https://doi.org/10.1097/..