E-LIB Suche - Ergebnisse für: Velinov, Milen T.

1

Diagnosis of late-infantile neuronal ceroid lipofuscinosis ..:

Gavin, Maureen ; Khatoon, Sabiha ; Marchi, Elaine J....
Clinica Chimica Acta. 507 (2020) - p. 62-68 , 2020

Link: https://doi.org/10.1016/..

2

Folate receptor autoantibodies are prevalent in children di..:

Quadros, Edward V. ; Sequeira, Jeffrey M. ; Brown, W. Ted...
Autism Research. 11 (2018) 5 - p. 707-712 , 2018

Link: https://doi.org/10.1002/..

3

Cover Image, Volume 174B, Number 8, December 2017:

Jenkins, Edmund C. ; Marchi, Elaine J. ; Velinov, Milen T....
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 174 (2017) 8 - p. , 2017

Link: https://doi.org/10.1002/..

4

Longitudinal telomere shortening and early Alzheimer's dise..:

Jenkins, Edmund C. ; Marchi, Elaine J. ; Velinov, Milen T....
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 174 (2017) 8 - p. 772-778 , 2017

Link: https://doi.org/10.1002/..

5

Telomere shortening in T lymphocytes of older individuals w..:

Jenkins, Edmund C. ; Velinov, Milen T. ; Ye, Lingling...
Neurobiology of Aging. 27 (2006) 7 - p. 941-945 , 2006

Link: https://doi.org/10.1016/..

6

Aggregation of Mutant Cysteine String Protein-α via Fe-S Cl..:

Naseri, Nima N ; Ergel, Burçe ; Kharel, Parinati...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021000/. , 2020

Link: http://www.ncbi.nlm.nih...

7

De novo and inherited variants in ZNF292 underlie a neurode..:

Mirzaa, Ghayda M. ; Chong, Jessica X. ; Piton, Amélie...
Genetics in Medicine. 22 (2020) 3 - p. 538-546 , 2020

Link: https://doi.org/10.1038/..

8

Whole-exome sequencing in the molecular diagnosis of indivi..:

Bekheirnia, Mir Reza ; Bekheirnia, Nasim ; Bainbridge, Matthew N....
Genetics in Medicine. 19 (2017) 4 - p. 412-420 , 2017

Link: https://doi.org/10.1038/..

9

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation ha..:

Henderson, Michael X. ; Wirak, Gregory S. ; Zhang, Yong-quan...
Acta Neuropathologica. 131 (2015) 4 - p. 621-637 , 2015

Link: https://doi.org/10.1007/..

10

Increased Expression of the Large Conductance, Calcium-Acti..:

Donnelier, Julien ; Braun, Samuel T. ; Dolzhanskaya, Natalia...
PLOS ONE. 10 (2015) 4 - p. e0125205 , 2015

Link: https://doi.org/10.1371/..

11

Expanding the genotypic and phenotypic spectrum in a divers..:

Sheppard, Sarah E ; Campbell, Ian M ; Harr, Margaret H...
qt0xp4224d. , 2021

Link: https://escholarship.org..

12

Expanding the genotypic and phenotypic spectrum in a divers..:

Sheppard, Sarah E ; Campbell, Ian M ; Harr, Margaret H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8631250/. , 2021

Link: http://www.ncbi.nlm.nih...

13

De novo and inherited variants in ZNF292 underlie a neurode..:

Mirzaa, Ghayda ; Chong, Jessica X ; Piton, Amélie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121/. , 2019

Link: http://www.ncbi.nlm.nih...

14

De novo mutations of KIAA2022 in females cause intellectual..:

de Lange, Iris M ; Helbig, Katherine L ; Weckhuysen, Sarah...
0022-2593. , 2016

Link: https://dspace.library.u..

15

De novo mutations of KIAA2022 in females cause intellectual..:

de Lange, Iris M ; Helbig, Katherine L ; Weckhuysen, Sarah...
de Lange , I M , Helbig , K L , Weckhuysen , S , Møller , R S , Velinov , M , Dolzhanskaya , N , Marsh , E , Helbig , I , Devinsky , O , Tang , S , Mefford , H C , Myers , C T , van Paesschen , W , Striano , P , van Gassen , K , van Kempen , M , de Kovel , C G F , Piard , J , Minassian , B A , Nezarati , M M , Pessoa , A , Jacquette , A , Maher , B , Balestrini , S , Sisodiya , S , Warde , M T A , De St Martin , A , Chelly , J , EuroEPINOMICS-RES MAE working group , van 't Slot , R , Van Maldergem , L , Brilstra , E H & Koeleman , B P C 2016 , ' De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy ' , Journal of Medical Genetics , vol. 53 , no. 12 , pp. 850-858 . https://doi.org/10.1136/jmedgenet-2016-103909. , 2016

Link: https://portal.findresea..