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Journal Francais D'Ophtalmologie|November 23, 2006
[Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families]D Sellami, K Makni, H Chaker, et al.
Archives of Endocrinology and Metabolism|October 30, 2025
A familial case of Kallmann syndrome: novel variants in ANOS1 and GNRHR genesAna L Piedra Pacheco, Luis F Moya Porras, Ana B Santos Rojo, et al.
Nature Genetics|April 16, 1998
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosisM Town, G Jean, S Cherqui, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 1, 1997
Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridizationL Heidet, Y Cai, Y Sado, et al.
Scientific Reports|March 9, 2021
Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutationsF C Tilley, C Arrondel, C Chhuon, et al.
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