| 1 |
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.
61
|
Michaud V...Arveiler B
|
32245340 |
2020 |
| 2 |
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.
61
|
Bibi N...Umm-e-Kalsoom
|
32849781 |
2020 |
| 3 |
Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.
61
|
Schidlowski L...Prando C
|
32411182 |
2020 |
| 4 |
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.
61
|
Zhong Z...Chen J
|
31077556 |
2019 |
| 5 |
Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.
61
|
Wang H...Wang J
|
31345173 |
2019 |
| 6 |
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
61
|
Power B...Gochuico BR
|
30791930 |
2019 |
| 7 |
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
61
|
Michaud V...Arveiler B
|
28640947 |
2017 |
| 8 |
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.
61
|
Jalloul AH...Schnetkamp PP
|
27129268 |
2016 |
| 9 |
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism].
61
|
He J...Hua A
|
26252096 |
2015 |
| 10 |
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
61
|
Morice-Picard F...Arveiler B
|
23985994 |
2014 |
| 11 |
OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.
61
|
Kausar T...Ahmed ZM
|
23050561 |
2013 |
| 12 |
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild.
61
|
Prado-Martinez J...Marques-Bonet T
|
23721540 |
2013 |
| 13 |
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
61
|
Schreyer-Shafir N...Blumenfeld A
|
17041891 |
2006 |
| 14 |
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.
61
|
Rooryck C...Arveiler B
|
16704458 |
2006 |
Rare eye diseases 
