Results 91 to 100 of about 13,993 (190)

Albinism [PDF]

, 2020
Mohsin H. Ali, Lejla Vajzovic
  +4 more sources

Early Genotype-Driven Diagnosis of Hermansky-Pudlak Syndrome Type 4 in a Child With Oculocutaneous Albinism: An Ophthalmic Case Report. [PDF]

Cureus
Szabo D, Waldispühl-Geigl J, Kamper S, Pilch H, Plecko B, Vollnhofer K, Posch-Pertl L.   +6 more
europepmc   +1 more source

Ocular Phenotypes and Novel <i>SLC45A2</i> Variants in Patients with Oculocutaneous Albinism Type 4. [PDF]

Genes (Basel)
Chen C, Wang B, Zheng Y, Liu J, Yu X.
europepmc   +1 more source

Albinism and human rights: From marginalisation to global advocacy. [PDF]

Afr J Disabil
Deane T.
europepmc   +1 more source

Skin cancer and actinic keratosis in people with albinism: a systematic review and meta-analysis. [PDF]

An Bras Dermatol
Tranquillini F, Soares VG, Mendes BX, Krish F, Franciscatti GC, Quaresma MV.   +5 more
europepmc   +1 more source

A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish. [PDF]

Pigment Cell Melanoma Res
Xing Y, Boswell W, Parker J, Du K, Schartl M, Lu Y.   +5 more
europepmc   +1 more source

Mild form of aromatic L-amino acid decarboxylase deficiency. [PDF]

BMJ Case Rep
Kenina V, Dīriks M, Pūcīte E, Mūrmane D, Lace B.   +4 more
europepmc   +1 more source

<i>OCA2</i> common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic. [PDF]

Mol Genet Metab Rep
Diallo M, Defay-Stinat A, Plaisant C, Derrien S, Mercier E, Javerzat S, Mesdaghi S, Rigden DJ, Lasseaux E, Michaud V, Arveiler B.   +10 more
europepmc   +1 more source

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism. [PDF]

NPJ Genom Med
Fassad MR, Vasudevan PC, Barwell J, Maconachie G, Madhusudhan S, Hunt D, Gottlob I, Moosajee M, Mahroo OA, Webster AR, Michaelides M, Thomas MG.   +11 more
europepmc   +1 more source

A rescue assay for genetic diagnosis of oculocutaneous albinism using melanocytic MNT1 knock-out cells. [PDF]

Front Genet
Mercier E, Michaud V, Sequeira A, Arveiler B, Javerzat S.   +4 more
europepmc   +1 more source