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                             18 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy Verhoeven, Willem M.A.
2012
55 5 p. 358-361
4 p.
artikel
2 Another cause of vaccine encephalopathy: A case of Angelman syndrome Novy, Jan
2012
55 5 p. 338-341
4 p.
artikel
3 Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities Galizia, Elizabeth C.
2012
55 5 p. 342-348
7 p.
artikel
4 Atypical male and female presentations of FLNA-related periventricular nodular heterotopia Fergelot, Patricia
2012
55 5 p. 313-318
6 p.
artikel
5 Clinical review of genetic epileptic encephalopathies Noh, Grace J.
2012
55 5 p. 281-298
18 p.
artikel
6 De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: A genomics approach to personalized medicine O’Leary, Ryan E.
2012
55 5 p. 349-353
5 p.
artikel
7 Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter–Tönz syndrome Schossig, Anna
2012
55 5 p. 319-322
4 p.
artikel
8 GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder Graham Jr., John M.
2012
55 5 p. 332-334
3 p.
artikel
9 Molecular bases and clinical spectrum of early infantile epileptic encephalopathies Tavyev Asher, Y. Jane
2012
55 5 p. 299-306
8 p.
artikel
10 Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy Valetto, Angelo
2012
55 5 p. 362-366
5 p.
artikel
11 Neurological findings in incontinentia pigmenti; a review Meuwissen, Marije E.C.
2012
55 5 p. 323-331
9 p.
artikel
12 Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister–Killian syndrome Filloux, Francis M.
2012
55 5 p. 367-373
7 p.
artikel
13 Preface Graham Jr., John M.
2012
55 5 p. 279-280
2 p.
artikel
14 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features Noh, Grace J.
2012
55 5 p. 354-357
4 p.
artikel
15 Ring chromosome 20 Daber, Robert D.
2012
55 5 p. 381-387
7 p.
artikel
16 Seizures and X-linked intellectual disability Stevenson, Roger E.
2012
55 5 p. 307-312
6 p.
artikel
17 Stimulus-induced drop episodes in Coffin–Lowry syndrome Hahn, Jin S.
2012
55 5 p. 335-337
3 p.
artikel
18 The ring 14 syndrome Zollino, Marcella
2012
55 5 p. 374-380
7 p.
artikel
                             18 gevonden resultaten
 
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