par Matejas, Verena;Hinkes, Bernward;Alkandari, Faisal;Al-Gazali, Lihadh;Annexstad, Ellen;Aytac, Mehmet M.B.;Barrow, Margaret;Bláhová, Květa;Bockenhauer, Detlef;Cheong, Hae Il;Maruniak-Chudek, Iwona;Cochat, Pierre;Dötsch, Jörg;Gajjar, Priya;Hennekam, Raoul;Janssen, Françoise ;Kagan, Mikhail;Kariminejad, Ariana;Kemper, Markus M.J.;Koenig, Jens;Kogan, Jillene;Kroes, Hester H.Y.;Kuwertz-Bröking, Eberhard;Lewanda, Amy A.F.;Medeira, Ana;Muscheites, Jutta;Niaudet, Patrick;Pierson, Michel;Saggar, Anand;Seaver, Laurie;Suri, Mohnish;Tsygin, Alexey;Wühl, Elke;Zurowska, Aleksandra;Uebe, Steffen;Hildebrandt, Friedhelm;Antignac, Corinne;Zenker, Martin
Référence Human mutation, 31, 9, page (992-1002)
Publication Publié, 2010-09
Référence Human mutation, 31, 9, page (992-1002)
Publication Publié, 2010-09
Article révisé par les pairs
Titre: |
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Auteur: | Matejas, Verena; Hinkes, Bernward; Alkandari, Faisal; Al-Gazali, Lihadh; Annexstad, Ellen; Aytac, Mehmet M.B.; Barrow, Margaret; Bláhová, Květa; Bockenhauer, Detlef; Cheong, Hae Il; Maruniak-Chudek, Iwona; Cochat, Pierre; Dötsch, Jörg; Gajjar, Priya; Hennekam, Raoul; Janssen, Françoise; Kagan, Mikhail; Kariminejad, Ariana; Kemper, Markus M.J.; Koenig, Jens; Kogan, Jillene; Kroes, Hester H.Y.; Kuwertz-Bröking, Eberhard; Lewanda, Amy A.F.; Medeira, Ana; Muscheites, Jutta; Niaudet, Patrick; Pierson, Michel; Saggar, Anand; Seaver, Laurie; Suri, Mohnish; Tsygin, Alexey; Wühl, Elke; Zurowska, Aleksandra; Uebe, Steffen; Hildebrandt, Friedhelm; Antignac, Corinne; Zenker, Martin |
Informations sur la publication: | Human mutation, 31, 9, page (992-1002) |
Statut de publication: | Publié, 2010-09 |
Sujet CREF: | Génétique clinique |
Biologie | |
Mots-clés: | Autosomal recessive |
LAMB2 | |
Laminin | |
Nephrotic syndrome | |
Ocular malformation | |
Pierson syndrome | |
Podocyte | |
Note générale: | SCOPUS: re.j |
FLWIN | |
Langue: | Anglais |
Identificateurs: | urn:issn:1059-7794 |
info:doi/10.1002/humu.21304 | |
info:scp/77956293608 | |
info:pmid/20556798 |