E-LIB Suche - Ergebnisse für: Eydoux, P.

1

P.057 Next-generation sequencing to determine a genetic cau..:

Hitchcock, E ; Diamond, J ; Eydoux, P...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 44 (2017) S2 - p. S27-S27 , 2017

Link: https://doi.org/10.1017/..

2

A.01 Targeted analysis of whole exome sequencing and genoty..:

Buerki, SE ; Toyota, EB ; Guella, I...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 43 (2016) S2 - p. S7-S7 , 2016

Link: https://doi.org/10.1017/..

3

The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Va..:

Potter, K.J. ; Creighton, S. ; Armstrong, L....
Molecular Syndromology. 4 (2013) 3 - p. 125-135 , 2013

Link: https://doi.org/10.1159/..

4

19p13.2 microduplication causes a Sotos syndrome‐like pheno..:

Lehman, AM ; du Souich, C ; Chai, D...
Clinical Genetics. 81 (2011) 1 - p. 56-63 , 2011

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

5

Co‐occurrence of Joubert syndrome and Jeune asphyxiating th..:

Lehman, A.M. ; Eydoux, P. ; Doherty, D....
American Journal of Medical Genetics Part A. 152A (2010) 6 - p. 1411-1419 , 2010

Link: https://doi.org/10.1002/..

6

A hemizygous SCO2 mutation in an early onset rapidly progre..:

LEARY, S ; MATTMAN, A ; WAI, T...
Molecular Genetics and Metabolism. 89 (2006) 1-2 - p. 129-133 , 2006

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

7

How can the genetic risks of embryo donation be minimized?:..:

Eydoux, P.
Human Reproduction. 19 (2004) 8 - p. 1685-1688 , 2004

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

8

Translocation (Y;22) resulting in the loss of SHOX and isol..:

Borie, C. ; Léger, J. ; Dupuy, O....
American Journal of Medical Genetics Part A. 125A (2003) 2 - p. 186-190 , 2003

Link: https://doi.org/10.1002/..

9

Phénotypes psycho-comportementaux de l'enfant et de l'adole..:

Excoffier, E. ; Verloes, A. ; Eydoux, P....
Annales Médico-psychologiques, revue psychiatrique. 161 (2003) 1 - p. 54-58 , 2003

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

10

CHARACTERIZATION OF FOUR NOVEL EPITHELIAL OVARIAN CANCER CE..:

PROVENCHER, D. M. ; LOUNIS, H. ; CHAMPOUX, L....
In Vitro Cellular & Developmental Biology - Animal. 36 (2000) 6 - p. 357 , 2000

Link: https://doi.org/10.1290/..

11

399 Pachygyria and polymicrogyria, craniofacial dysmorphism..:

Dupuy, O. ; Husson, I. ; Wirth, J....
European Journal of Paediatric Neurology. 3 (1999) 6 - p. A58 , 1999

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

12

Fetus with Casamassima-Morton-Nance syndrome and an inherit..:

Da�kha-Dahmane, F. ; Huten, Y. ; Morvan, J....
American Journal of Medical Genetics. 80 (1998) 5 - p. 514-517 , 1998

Link: https://doi.org/10.1002/..

13

Prenatal diagnosis for inborn errors of metabolism and haem..:

Sasi, K. ; Sanderson, D. ; Eydoux, P....
Prenatal Diagnosis. 17 (1997) 7 - p. 681-685 , 1997

Link: https://doi.org/10.1002/..

14

Diagnostic prénatal: acquisitions récentes en cytogénétique:

Serero, S ; Eydoux, P ; Nessmann, C
Immuno-analyse & Biologie Spécialisée. 12 (1997) 4 - p. 165-168 , 1997

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

15

838 Cellular immunodeficiency with elevated IgE and a new a..:

KAGAN, R ; DERKALOUSTIAN, V ; EYDOUX, P.
Journal of Allergy and Clinical Immunology. 97 (1996) 1 - p. 392-392 , 1996

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