E-LIB Suche - Ergebnisse für: Alembik, Y.

1

Wiedemann‐Steiner syndrome as a major cause of syndromic in..:

Baer, S. ; Afenjar, A. ; Smol, T....
Clinical Genetics. 94 (2018) 1 - p. 141-152 , 2018

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

2

Trisomie 21 à l'âge adulte : dysimmunité et risque infectie..:

Dieudonné, Y. ; Guffroy, A. ; Uring-Lambert, B....
La Revue de Médecine Interne. 37 (2016) - p. A121-A122 , 2016

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

3

Postnatal phenotype according to prenatal ultrasound featur..:

Gaudineau, A. ; Doray, B. ; Schaefer, E....
Prenatal Diagnosis. 33 (2013) 3 - p. 238-241 , 2013

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

4

X‐linked and autosomal recessive Hypohidrotic Ectodermal Dy..:

Clauss, F ; Chassaing, N ; Smahi, A...
Clinical Genetics. 78 (2010) 3 - p. 257-266 , 2010

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

5

In vivo and in vitro effect of E831X mutation:

Hinzpeter, A. ; Costa, C. ; Alembik, Y....
Journal of Cystic Fibrosis. 8 (2009) - p. S4 , 2009

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

6

Dento-Craniofacial Phenotypes and underlying Molecular Mech..:

Clauss, F. ; Manière, M.-C. ; Obry, F....
Journal of Dental Research. 87 (2008) 12 - p. 1089-1099 , 2008

Link: https://doi.org/10.1177/..

7

Associated malformations in patients with anorectal anomali..:

Stoll, C. ; Alembik, Y. ; Dott, B..
European Journal of Medical Genetics. 50 (2007) 4 - p. 281-290 , 2007

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

8

Are the recommendations on the prevention of neural tube de..:

Stoll, C. ; Alembik, Y. ; Dott, B.
European Journal of Medical Genetics. 49 (2006) 6 - p. 461-465 , 2006

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

9

Intrachromosomal triplication for the distal part of chromo..:

Schluth, C. ; Mattei, M. G. ; Mignon‐Ravix, C....
American Journal of Medical Genetics Part A. 136A (2005) 2 - p. 179-184 , 2005

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

10

P54 Endocrinologie Anomalies du fonctionnement thyroidien e..:

Stoll, C. ; Alembik, Y.
Archives de Pédiatrie. 10 (2003) - p. s292 , 2003

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

11

Limb reduction defects in the first generation and deafness..:

Stoll, C. ; Alembik, Y. ; Dott, B.
Annales de Génétique. 46 (2003) 4 - p. 459-465 , 2003

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

12

Two cousins with partial trisomy 12q and monosomy 12p recom..:

Lagier‐Tourenne, Clotilde ; Ginglinger, E. ; Alembik, Y....
American Journal of Medical Genetics Part A. 125A (2003) 1 - p. 77-85 , 2003

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

13

Impact of prenatal diagnosis on livebirth prevalence of chi..:

Stoll, Claude ; Alembik, Y ; Dott, B.
Annales de Génétique. 45 (2002) 3 - p. 115-121 , 2002

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

14

Evaluation and evolution during time of prenatal diagnosis ..:

Stoll, C ; Dott, B ; Alembik, Y.
Annales de Génétique. 45 (2002) 1 - p. 21-27 , 2002

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

15

Risk factors in congenital abdominal wall defects (omphaloc..:

Stoll, C. ; Alembik, Y. ; Dott, B..
Annales de Génétique. 44 (2001) 4 - p. 201-208 , 2001

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