Results 91 to 100 of about 2,978 (164)

Quantifying functional vision in a mouse model of oculocutaneous albinism type 1. [PDF]

Sci Rep
Kriebel WG, Larimer-Picciani AM, Nukala M, Sahel JA, Byrne LC.   +4 more
europepmc   +1 more source

Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation. [PDF]

Oxf Med Case Reports
Balaraddi V, Nawlakhe K, K S, Bandiya P.
europepmc   +1 more source

Correction of Abnormal Head Position in Pediatric Nystagmus Using Yoked Low-Value Prism Glasses: A Retrospective Study. [PDF]

Invest Ophthalmol Vis Sci
Nsour G, Misawa MAM, Adamuccio J, Goldsmith M, Teplitski K, Markowitz S, Markowitz M, Markowitz SN, Daibert-Nido M.   +8 more
europepmc   +1 more source

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

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

Oculocutaneous Albinism-A review

Pure and Applied Biology, 2022
openaire   +1 more source

Case Report: Hermansky-Pudlak syndrome type 1 with pulmonary involvement in a 62-year-old Caucasian woman with rheumatoid arthritis. [PDF]

Front Immunol
Giulianelli G, Bernardinello N, Cocconcelli E, Rizzo S, Basso C, Bertomoro A, Ferrari S, Colavito D, Spagnolo P, Balestro E.   +9 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

Analysis of multi-trait evolution across independently evolved cavefish populations reveals shared and independent evolution of suites of traits. [PDF]

Proc Biol Sci
Choy S, Enriquez M, Ambosie R, Manning AE, Mullin B, Rodriguez-Morales R, Abdelaziz J, Jacobson S, Lloyd E, Padmanaban N, Kimmel A, Lapko S, Carino-Bazan I, Bilandžija H, Keene AC, Duboue ER, McGaugh SE, Kowalko JE.   +17 more
europepmc   +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

Insights from Computational Dynamic Active Site Mapping into Substrate Recognition and Mutation-Induced Dysfunction in Human Tyrosinase. [PDF]

Int J Mol Sci
Dolinska MB, Sergeev YV.
europepmc   +1 more source