Results 121 to 130 of about 5,505 (212)

CKD and Tubular Proteinuria in a Patient with Albinism. [PDF]

Kidney360
Mikačić I, Koprivanac A, Ćorić M.
europepmc   +1 more source

Genome-wide association studies identify multiple genetic loci influencing eyebrow color variation in Europeans [PDF]

, 2019
Chen, Yan, Duffy, David L., Eller, Ryan J., Hamer, Merel A., Hopkins, Racquel L., Hysi, Pirro G., Ikram, M. Arfan, Jacobus, Case L., Kayser, Manfred, Li, Yi, Liu, Fan, Martin, Nicholas G., Medland, Sarah E., Nijsten, Tamar, Peng, Fuduan, Spector, Timothy D., Uitterlinden, André G., Wallace, Paige L., Walsh, Susan, Zeng, Changqing, Zhu, Gu   +20 more
core   +1 more source

Concentric macular rings and OCT corrugations in foveal hypoplasia: proof of concept for an optical interference mechanism. [PDF]

Int J Retina Vitreous
August AH, Eagle RC, Milman T, Procopio R, Schnall BM, Pulido JS.   +5 more
europepmc   +1 more source

Contribution of Cytology to the Diagnosis of Chediak-Higashi Syndrome. [PDF]

Cureus
Naamane MA, Harrach A, Boussif S, Bencharef H, Oukkache B.   +4 more
europepmc   +1 more source

Kidney melanosis associated with a novel HSP-1 Hermansky-Pudlak oculocutaneous albinism mutation: a case report. [PDF]

BMC Nephrol
Ali AA, Saleem ZSM, Jabali SS, Ibrahim NMR, Hughson MD.   +4 more
europepmc   +1 more source

Oculocutaneous albinism in a patient with an <i>OCA2</i> variant: molecular and clinical insights. [PDF]

Asian Biomed (Res Rev News)
Neissi M, Al-Mozani SK, Al-Zaalan AR, Sanavi Shiri S, Sheikh-Hosseini M, Al-Badran AI, Nekouei E.   +6 more
europepmc   +1 more source

Identification of two novel mutations in the gene in a Hungarian pedigree affected by unusual OCA type 4 [PDF]

core   +1 more source

Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature [PDF]

, 2007
George Kouklakis, Eleni I Efremidou, Michael S Papageorgiou, Evdoxia Pavlidou, Konstantinos J Manolas, Nikolaos Liratzopoulos, RA Schinella, Y Erzin, D Hazzan, AL Grucela, A De Leusse, CJ Witkop, CJ Witkop, A Sherman, N Hussain, WC Lim   +15 more
core   +1 more source

Vesicular Transport Mediated by Endoplasmic Reticulum Stress Sensor BBF2H7 Orchestrates Melanin Production During Melanogenesis. [PDF]

Int J Mol Sci
Phan GH, Fujise K, Imaizumi K, Saito A.
europepmc   +1 more source

Investigation of albinism genes in congenital esotropia [PDF]

, 2003
Barbour, Julie M, Burdon, Kathryn Penelope, Dickinson, Joanne L, Mackey, David A, Sale, Michele M, Stankovich, Jim M, Wilkinson, Robin M   +6 more
core