Results 161 to 170 of about 5,505 (212)

Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome). [PDF]

Genet Mol Biol
Alfadhel M, Alhubayshi BS, Umair M, Alfaidi A, Alwadaani D, Aloyouni E, Abbas S, Abdulrahman AA, Aldrees M, Tuwaijri AA, Alharithy RS, Alajlan A, Alswaid A, Almohrij S, Al-Khenaizan S.   +14 more
europepmc   +1 more source

Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population. [PDF]

Hum Genomics
Hao N, Lü Y, Bian J, Yin K, Xiao R, Hu P, Peng Y, Huang M, Qiao F, Xiao R, Liu Y, You Y, Jiang Y.   +12 more
europepmc   +1 more source

Hermansky-Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies. [PDF]

IUBMB Life
Tondi F, Cirsmaru RA, Conti C, Follenzi A, Gresele P, Olgasi C, Bury L.   +6 more
europepmc   +1 more source

Griscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism. [PDF]

Cureus
Afzal M, Ashraf S, Humayun L, Akhtar R, Masood A, Iram S, Imran S.   +6 more
europepmc   +1 more source

Refractory Colitis in Hermansky-Pudlak Syndrome: A Surgical Case Report. [PDF]

Cureus
Serpa-Irizarry M, Rodriguez-Reyes D, Mejias-Febres ED, Lafontaine JC, Correa M, Delgado-Cifuentes A.   +5 more
europepmc   +1 more source

Abnormally small neuromuscular junctions in the extraocular muscles from subjects with idiopathic nystagmus and nystagmus associated with albinism

Anderson, Jill S., Bothun, Erick D., Felius, Joost, Gottlob, Irene, Lee, Helena, McLoon, Linda K., Stager, David, Willoughby, Christy L.   +7 more
core   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Oculocutaneous albinism

Journal of the European Academy of Dermatology and Venereology, 2003
ABSTRACTOculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described.
J F, Okulicz, R S, Shah, R A, Schwartz, C K, Janniger   +3 more
openaire   +2 more sources

Oculocutaneous albinism and schizophrenia

Biological Psychiatry, 1986
rodents, albinos showed marked behavioral differences from their pigmented counterparts (Henry and Schlesinger 1967). Greiner and Nicolson (1965) proposed a relationship between hypermelanosis and schizophrenia, noting increased melanogenesis in autopsy material from schizophrenics institutionalized in the prephenothiazine era. They hypothesized that a
M H, Pollack, T C, Manschreck
openaire   +2 more sources