Zobrazeno 1 - 10
of 307
pro vyhledávání: '"PSEUDOGLIOMA"'
Autor:
BEI JIA1, LIPING HUANG1, YAOYU CHEN2, SIPING LIU1, CUIHUA CHEN1, KE XIONG3, LANLIN SONG1, YULAI ZHOU2, XINPING YANG4,5 yangxinping@smu.edu.cn, MEI ZHONG1 zhongmei@smu.edu.cn
Publikováno v:
Journal of Genetics. Dec2017, Vol. 96 Issue 6, p1015-1020. 6p.
Publikováno v:
JCRPE, Vol 15, Iss 3, Pp 318-323 (2023)
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that lead to vision loss. In this study, clinical findings and genetic study of two siblings with OPPG are pre
Externí odkaz:
https://doaj.org/article/9c98e735b5934989b20354e25a210a73
Publikováno v:
Journal of Cutaneous Pathology. Nov2015, Vol. 42 Issue 11, p884-888. 5p.
Autor:
Nyamori, Joseph M.1 joenyamori@yahoo.com, Kimani, Kahaki1, Njuguna, Margaret W.1, Dimaras, Helen2,3,4
Publikováno v:
Middle East African Journal of Ophthalmology. Oct-Dec2014, Vol. 21 Issue 4, p321-327. 7p.
Autor:
El-Deeb, Nadia1, Shaarawy, Ashraf2, El-Enbaby, Ashraf1 elenbaby@hotmail.com, Popovic, Maja Beck3, Fadel, Shady1
Publikováno v:
Pan Arab Journal of Oncology. Mar2014, Vol. 7 Issue 1, p16-20. 5p.
Autor:
Laine, C. M.1,2 christine.laine@fimnet.fi, Chung, B. D.3,4, Susic, M.5, Prescott, T.6, Semler, O.7, Fiskerstrand, T.8, D'Eufemia, P.9, Castori, M.10, Pekkinen, M.2, Sochett, E.5, Cole, W. G.5, Netzer, C.3,4, Mäkitie, O.1,2
Publikováno v:
European Journal of Human Genetics. Aug2011, Vol. 19 Issue 8, p875-881. 7p. 4 Diagrams, 1 Graph.
Autor:
Budde, Andreja1,2, Schneiderhan-Marra, Nicole1,2, Petersen, Gabriele3, Brüne, Bernhard2 bruene@rhrk.uni-kl.de
Publikováno v:
Oncogene. 3/3/2005, Vol. 24 Issue 10, p1802-1808. 7p.
Autor:
Andarva, Monavvar1, Ghaedi, Hamid1, Alehabib, Elham1, Taghavi, Shaghyegh1, Pouriran, Ramin1, Darvish, Hossein1, Jamshidi, Javad2, Daftarian, Narsis3, Emamalizadeh, Babak4
Publikováno v:
Clinical & Experimental Optometry. Mar2018, Vol. 101 Issue 2, p255-259. 5p.
Autor:
Astiazarán, Mirena C.1, Cervantes-Sodi, María2, Rebolledo-Enríquez, Erick3, Chacón-Camacho, Oscar1, Villegas, Vanessa1, Zenteno, Juan Carlos1,4
Publikováno v:
Genetic Testing & Molecular Biomarkers. Dec2017, Vol. 21 Issue 12, p742-746. 5p.
Autor:
Aldiri, Issam1, Itsuki Ajioka2, Beisi Xu3, Jiakun Zhang1, Xiang Chen3, Benavente, Claudia1, Finkelstein, David3, Johnson, Dianna4, Akiyama, Jennifer5,6, Pennacchio, Len A.5,6, Dyer, Michael A.1,4,7 michael.dyer@stjude.org
Publikováno v:
Development (09501991). Dec2015, Vol. 142 Issue 23, p4092-4106. 15p.