Results 141 to 150 of about 7,886 (197)

Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications. [PDF]

Medicine (Baltimore)
Abubakir M, Abdul Rahman N, Hamza A, Haj Kasem S, Khayata MA, Kouja D.   +5 more
europepmc   +1 more source

A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling. [PDF]

Transl Vis Sci Technol
Surl D, Choi TI, Park JW, Don DW, Kim TY, Thomas MG, Park JS, Wei X, Bae YK, Han J, Kim CH.   +10 more
europepmc   +1 more source

Cutaneous Depigmentation in a Child With Ocular Albinism Type 1: Expanding the Clinical Phenotype. [PDF]

Cureus
Monteiro M, Fazendeiro Matos J, Sá J, Nabais Sá MJ, Queirós C.   +4 more
europepmc   +1 more source

Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disorders. [PDF]

JCI Insight
Dolinska MB, Wang Y, Coussens NP, Kalaskar VK, Eraslan Z, Grondin SJ, Bonica J, Toay S, Hall MD, Shen M, Boxer M, Chen Q, Gross SS, Attarwala N, Jittayasothorn Y, Alur RP, Shukla D, Kee R, DeYoung C, Sha C, Adams DR, Loftus SK, Cogliati T, Sergeev YV, Zippin JH, Brooks BP.   +25 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

Isolated Bilateral Foveal Hypoplasia Diagnosed in Adulthood Following Evaluation for Presbyopia. [PDF]

Cureus
Safwate H, Ait Amar H, Razzak A, Bouazza M, Elbelhadji M.   +4 more
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

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

Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing. [PDF]

Eur J Hum Genet
Derar MAM, Yu J, Watson CM, McKibbin M, Bell SM, Inglehearn CF, Toomes C.   +6 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