Results 111 to 120 of about 19,788 (203)

Non-verbal sound processing in the primary progressive aphasias [PDF]

, 2010
Little is known about the processing of non-verbal sounds in the primary progressive aphasias. Here, we investigated the processing of complex non-verbal sounds in detail, in a consecutive series of 20 patients with primary progressive aphasia [12 with ...
Bamiou, D.-E., Crutch, S. J., Frost, C., Goll, J. C., Loo, J. H. Y., Rohrer, J. D., Warren, J. D.   +6 more
core  

Abnormal glycosylation in Joubert syndrome type 10 [PDF]

, 2017

core   +1 more source

Coloboma: Chave Ocular Para Patologia Sistémica [PDF]

, 2016
Introdução: Um coloboma é uma anomalia do desenvolvimento que se caracteriza, na maioria dos casos, por um deficiente encerramento da fissura embrionária na 6ª semana da gestação.
Basílio, AL, Crisóstomo, S, Marques, M, Martins, M, Paixão, A, Proença, R, Toscano, A   +6 more
core  

Development of end-stage renal disease at a young age in two cases with Joubert syndrome

The Turkish Journal of Pediatrics, 2014
Joubert syndrome (JS) is an autosomal recessive genetic disorder. To date, mutations in 20 genes of the genetically heterogeneous JS and JS-related disorders (JSRD) have been reported. Renal involvement occurs in 2-20% of JS cases.
Ferah Sönmez, Melike Güzünler-Şen, Dilek Yılmaz, Gamze Cömertpay, Marisol Heise, Sebahattin Çırak, Gökhan Uyanık   +6 more
doaj  

Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy. [PDF]

, 2017
Ackroyd, Ackroyd, Assadi, Barone, Beltran-Valero de Bernabe, Bielle, Booler, Borrell, Bouchet, Brockington, Buysse, Carss, Copp, Devisme, Dobyns, Ervasti, Gee, Halfter, Hartfuss, Hirotsune, Hong, Hu, Hu, Kranz, Lefeber, Lefeber, Longman, Manzini, Meyer, Montagnani, Moore, Moore, Myshrall, Radner, Reiner, Rice, Roscioli, Satz, Shaheen, Siegenthaler, Stevens, Sugita, Takiguchi-Hayashi, Toda, van Reeuwijk, Vuillaumier-Barrot, Willer, Yang, Yeo, Yoshida, Yoshida-Moriguchi, Yurchenco   +51 more
core   +2 more sources

[Joubert's syndrome].

Srpski arhiv za celokupno lekarstvo, 2008
In 1969 a new syndrome was described by Joubert et al. It is a very rare syndrome as only about 30 cases have been reported, and none in Yugoslavia. The main clinical characteristics are as ballows. - Disturbed respiratory rhythm alternating periods of hyperapnea and apnea) which tend to disappear as the child grows; - Abnormal eyemovements (jerky ...
D, Vranjesević, A, Djukić, N, Sekulić
openaire   +1 more source

Multidimensional Functional Phenotyping in Children with Joubert Syndrome: A Pilot Case Series. [PDF]

Brain Sci
Mański Ł, Moluszys A, Góra A, Wasilewska E, Rosa A, Szczałuba K, Szymańska K, Wierzba J.   +7 more
europepmc   +1 more source

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa

Pharmacogenomics and Personalized Medicine
Liang Chen,1,* Mei-Fang Zhao,2,* Hui-Wen Deng,1 Min Liao,1 Liang-Liang Fan,2 Qi-Bao Zhong,3 Jun Wang,1 Ke Li,1 Zheng-Hui Wu,4,* Jian-Yin Yin1 1Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital, Changsha ...
Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY   +9 more
doaj  

Comprehensive Rehabilitation in a Child with Joubert Syndrome: A Case Report. [PDF]

Prog Rehabil Med
Mathews E, Goyal V, Mhambre A, Gaur AK.
europepmc   +1 more source

Case Report: A case of Joubert syndrome in twin pregnancy: MRI manifestations and literature review. [PDF]

Front Pediatr
Ren S, Li A, Yang J, Zhou L, Lu T.
europepmc   +1 more source