Results 181 to 190 of about 6,439 (248)

Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families. [PDF]

BMC Ophthalmol
Khan J, Asif S, Ghani S, Khan H, Arshad MW, Khan SA, Lin S, Baple EL, Salter C, Crosby AH, Rawlins L, Shabbir MI.   +11 more
europepmc   +1 more source

Review for "Clinical variability and probable founder effect in oculocutaneous albinism type 7"

, 2019

openalex   +1 more source

Cataract surgery and artificial iris implantation in patient with oculocutaneous albinism: a case report. [PDF]

Arq Bras Oftalmol
Peixoto GV, Martinho GT, Conti CCT, Villaça Filho E, Pinheiro RK.   +4 more
europepmc   +1 more source

Oculocutaneous albinism type 7 [PDF]

, 2020
openaire   +1 more source

Evaluation of the subfoveal choroidal thickness in patients with oculocutaneous albinism.

, 2018
Marco Santos Almeida, Liara Hirota, Roberta Pereira de Almeida Manzano, Ronaldo Yuiti Sano   +3 more
openalex   +1 more source

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications. [PDF]

Eur J Hum Genet
Kohli S, Saxena R, Puri RD, Bijarnia Mahay S, Pal S, Dubey S, Arora V, Verma I.   +7 more
europepmc   +1 more source

Referee report. For: Observation of a unique case of metastatic basal cell carcinoma found by radiographic evaluation in a patient with oculocutaneous albinism [v1; indexed, http://f1000r.es/2lw]

, 2014
Amanda Mullins
openalex   +1 more source

Oculocutaneous Albinism in Northern Madagascar: Clinical Burden, Social Stigma, and Impact of a Community-Based Photoprotection Program [PDF]

Rebecca Donadoni, Andrea Michelerio, Valeria Brazzelli   +2 more
openalex   +1 more source

After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. [PDF]

Mol Genet Genomic Med
Serrano-González J, Montes-Rodríguez I, Renta JY, Rojas R, Cadilla CL.   +4 more
europepmc   +1 more source