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                             8 results found
no title author magazine year volume issue page(s) type
1 A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay Johannsen, Jessika
 2018
 19 3 p. 151-156
 article
2 Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes Landoulsi, Zied
 2018
 19 3 p. 165-178
 article
3 Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia Steenhof, Maria
 2018
 19 3 p. 145-149
 article
4 FUS(1-359) transgenic mice as a model of ALS: pathophysiological and molecular aspects of the proteinopathy Funikov, Sergei Y.
 2018
 19 3 p. 189-204
 article
5 Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings Caylor, R. C.
 2018
 19 3 p. 205-213
 article
6 R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome Catania, A.
 2018
 19 3 p. 179-187
 article
7 Toward deciphering the mechanistic role of variations in the Rep1 repeat site in the transcription regulation of SNCA gene Afek, A.
 2018
 19 3 p. 135-144
 article
8 Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause Yang, Chin-An
 2018
 19 3 p. 157-163
 article
                             8 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands