✦ LIBER ✦

A patient with features of both Bardet-Biedl and Alström syndromes

✍ Scribed by C. Hauser; C. Rojas; A. Roth; E. Schmied; J. -H. Saurat

Book ID: 105413708
Publisher: Springer
Year: 1990
Tongue: English
Weight: 776 KB
Volume: 149
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf01957281

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Bardet-Biedl and Alström syndromes in Sp

Bardet-Biedl and Alström syndromes in Spain

✍ D Valverde, T Piñeiro-Gallego, I Pereiro 📂 Article 📅 2012 🏛 BioMed Central 🌐 English ⚖ 80 KB

Arrayed primer extension technology simp

Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome

✍ Pereiro, Ines; Hoskins, Bethan E; Marshall, Jan D; Collin, Gayle B; Naggert, Jür 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 206 KB

EURO-WABB: an EU rare diseases registry

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

✍ Farmer, Amy; Aymé, Ségolène; de Heredia, Miguel; Maffei, Pietro; McCafferty, Sus 📂 Article 📅 2013 🏛 BioMed Central 🌐 English ⚖ 645 KB

http://www.euro-wabb.org: an EU Register

http://www.euro-wabb.org: an EU Register for Alstrom, Bardet Biedl and other rare syndromes

✍ T Barrett, A Farmer, S Aymé, P Maffei, S McCafferty, W Mlynarski, V Nunes… 📂 Article 📅 2012 🏛 BioMed Central 🌐 English ⚖ 84 KB

Mesoaxial polydactyly is a major feature

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 ( BBS17 ) mutations

✍ Schaefer, E.; Lauer, J.; Durand, M.; Pelletier, V.; Obringer, C.; Claussmann, A. 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 653 KB

Rod-cone interactions in the ERG of a pa

Rod-cone interactions in the ERG of a patient with Bardet-Biedl syndrome

✍ Joseph M. Harrison; W. A. J. Heuven 📂 Article 📅 1985 🏛 Springer-Verlag 🌐 English ⚖ 686 KB

During routine ERG testing of a patient with Bardet-Biedl syndrome, we encountered an ERG anomaly not previously reported. A white flash which produced a response during light adaptation would produce no ERG when the retina was darkadapted. Possible explanations for this phenomenon are discussed;