Suchergebnisse - "Addor, Marie-Claude"

PubPharm (32)

1

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

enthalten in: Human mutation | 2009

von Magyar, I. | Colman, D. | Arnold, E. | +8

2

Maternal age-specific risk of non-chromosomal anomalies

enthalten in: BJOG : an international journal of obstetrics and gynaecology | 2009

von Loane, M. | Dolk, H. | Morris, J. | +24

3

Congenital hydronephrosis : prenatal diagnosis and epidemiology in Europe

enthalten in: Journal of pediatric urology | 2009

von Garne, E. | Loane, M. | Wellesley, D. | +19

ErratumIn: J Pediatr Urol. 2009 Jun;5(3):250

4

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytesCommunicated by Mats Nilsson

enthalten in: Human mutation | 2009

von Magyar, I. | Colman, D. | Arnold, E. | +8

5

Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations?

enthalten in: Neurology | 2008

von Dolk, H. | Jentink, J. | Loane, M. | +25

CommentIn: Neurology. 2008 Sep 2;71(10):706-7. - PMID 18765647

6

Subtelomeric 6p deletion : clinical and array-CGH characterization in two patients

enthalten in: American journal of medical genetics. Part A | 2008

von Martinet, D. | Filges, I. | Besuchet Schmutz, N. | +8

7

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

enthalten in: Journal of human genetics | 2008

von Narumi, Y. | Aoki, Y. | Niihori, T. | +19

8

Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patientsHow to cite this article: Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide A-C, Dahoun S, Bottani A, Addor M-C, Antonarakis SE, Beckmann JS, Béna F. 2008. Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients. Am J Med Genet Part A 146A:2094-2102.

enthalten in: American journal of medical genetics / C | 2008

von Martinet, D. | Filges, I. | Besuchet Schmutz, N. | +8

9

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

enthalten in: Journal of human genetics | 2008

von Narumi, Y. | Aoki, Y. | Niihori, T. | +16

10

Uncombable hair syndrome : a clinical report

enthalten in: European journal of medical genetics | 2007

von Rieubland, C. | de Viragh, P. | Addor, M.