List of bibliographic references
Number of relevant bibliographic references: 7.
| Ident. | Authors (with country if any) | Title |
|---|
| 000298 (2011) |
Juliette Piard [France] ; Christel Depienne [France] ; Boris Keren [France] ; Estelle Fédirko [France] ; Oriane Trouillard [France] ; Perrine Charles [France] ; Delphine Heron [France] | Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA |
| 000301 (2011) |
Daphne Lehalle [Royaume-Uni, France] ; Charles Williams [États-Unis] ; Victoria Mok Siu [Canada] ; Jill Clayton-Smith [Royaume-Uni] | Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome |
| 000390 (2009) |
Caroline Schluth-Bolard [France] ; Damien Sanlaville [France] ; Audrey Labalme [France] ; Marianne Till [France] ; Laurence Michel-Calemard [France] ; Azim Rafat [France] ; Marie-Thérèse Zabot [France] ; Marc Nicolino [France] ; Laurent Guibaud [France] ; Patrick Edery [France] | Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype |
| 000503 (2006) |
Karen Helene Rstavik [Norvège] ; Marianne Kristiansen [Norvège] ; Gun Peggy Knudsen [Norvège] ; Kari Storhaug [Norvège] ; Shild Vege [Norvège] ; Kristin Eiklid [Norvège] ; Tore G. Abrahamsen [Norvège] ; Asma Smahi [France] ; Jon Steen-Johnsen [Norvège] | Novel splicing mutation in the NEMO (IKK‐gamma) gene with severe immunodeficiency and heterogeneity of X‐chromosome inactivation |
| 000507 (2006) |
Alain Verloes [France] ; Dominique Bremond-Gignac [France] ; Bertrand Isidor [France] ; Albert David [France] ; Clarisse Baumann [France] ; Marie-Anne Leroy [Belgique] ; René Stevens [Belgique] ; Yves Gillerot [Belgique] ; Delphine Héron [France] ; Bénédicte Héron [France] ; Brigitte Benzacken [France] ; Didier Lacombe [France] ; Han Brunner [France] ; Pierre Bitoun [Pays-Bas] | Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessive |
| 000577 (2004) |
Christine Léauté-Labrèze [France] ; Franck Boralevi [France] ; Mariane Cony [France] ; Jean Maleville [France] ; Didier Lacombe [France] ; Jean-Etienne Surlève-Bazeille [France] ; Alain Taïeb [France] | Self‐healing congenital verruciform hyperkeratosis |
| 000624 (2003) |
André Mégarbané [Liban, France] ; Joseph Haddad [Liban] ; Stanislass Lyonnet [France] ; Jill Clayton-Smith [Royaume-Uni] | Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–cutis marmorata telangiectatica congenita syndrome or new disorder? |
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/France/Analysis
HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/ISSN.i -k "1552-4833"
HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/ISSN.i \
-Sk "1552-4833" \
| HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= France
|étape= Analysis
|type= indexItem
|index= ISSN.i
|clé= 1552-4833
}}
| This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024 |  |
