Results 141 to 150 of about 87,553 (201)

Exome-first approach identified a novel gloss deletion associated with Lowe syndrome. [PDF]

Hum Genome Var, 2016
Watanabe M, Nakagawa R, Kohmoto T, Naruto T, Suga KI, Goji A, Horikawa H, Masuda K, Kagami S, Imoto I.   +9 more
europepmc   +1 more source

Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex. [PDF]

PLoS One, 2018
Hsieh WC, Ramadesikan S, Fekete D, Aguilar RC.   +3 more
europepmc   +1 more source

Clinical utility gene card for: Lowe syndrome. [PDF]

Eur J Hum Genet, 2015
Bökenkamp A, Levtchenko E, Recker F, Ludwig M.   +3 more
europepmc   +1 more source

The cellular and physiological functions of the Lowe syndrome protein OCRL1. [PDF]

Traffic, 2014
Mehta ZB, Pietka G, Lowe M.
europepmc   +1 more source

A genetic and physiological model of renal dysfunction in Lowe syndrome

Ramesh NA, Kataria V, Lama IS, Thakur R, Ghosh A, Sharma S, Venugopal A, Vasudevan A, Padinjat R.   +8 more
europepmc   +1 more source

Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells. [PDF]

Mol Autism, 2018
Barnes J, Salas F, Mokhtari R, Dolstra H, Pedrosa E, Lachman HM.   +5 more
europepmc   +1 more source

Multiple epidermal cysts in lowe syndrome. [PDF]

Ann Dermatol, 2010
Won JH, Lee MJ, Park JS, Chung H, Kim JK, Shim JS.   +5 more
europepmc   +1 more source

Low T3 Syndrome [PDF]

, 2020
openaire   +1 more source

[Low-T3/Low-T4 syndrome].

Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine, 1996
M, Nishikawa, N, Toyota, M, Inada
openaire   +1 more source