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Mercimek‐Mahmutoglu, Saadet
57
results:
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Online (57)
Mediatypes
Articles (Online) (51)
OpenAccess-fulltext (6)
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english (56)
french (1)
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1
Variable expressivity of a likely pathogenic variant in KCN..:
Hewson, Stacy
;
Puka, Klajdi
;
Mercimek‐Mahmutoglu, Saadet
American Journal of Medical Genetics Part A. 173 (2017) 8 - p. 2226-2230 , 2017
Link:
https://doi.org/10.1002/..
?
2
BCAP31‐associated encephalopathy and complex movement disor..:
Albanyan, Saleh
;
Al Teneiji, Amal
;
Monfared, Nasim
.
American Journal of Medical Genetics Part A. 173 (2017) 6 - p. 1640-1643 , 2017
Link:
https://doi.org/10.1002/..
?
3
MED23‐associated refractory epilepsy successfully treated w..:
Lionel, Anath C.
;
Monfared, Nasim
;
Scherer, Stephen W.
..
American Journal of Medical Genetics Part A. 170 (2016) 9 - p. 2421-2425 , 2016
Link:
https://doi.org/10.1002/..
?
4
Reply letter to Jinnah "Locus pocus" and Albanese "Complex ..:
Klein, Christine
;
Lang, Anthony
;
van de Warrenburg, Bart P.
...
Movement Disorders. 31 (2016) 11 - p. 1760-1762 , 2016
Link:
https://doi.org/10.1002/..
?
5
Nomenclature of genetic movement disorders: Recommendations..:
Marras, Connie
;
Lang, Anthony
;
van de Warrenburg, Bart P.
...
Movement Disorders. 31 (2016) 4 - p. 436-457 , 2016
Link:
https://doi.org/10.1002/..
?
6
Diagnostic yield of genetic testing in epileptic encephalop..:
Mercimek‐Mahmutoglu, Saadet
;
Patel, Jaina
;
Cordeiro, Dawn
...
Epilepsia. 56 (2015) 5 - p. 707-716 , 2015
Link:
https://doi.org/10.1111/..
?
7
Bacterial expression of mutant argininosuccinate lyase reve..:
Engel, Katharina
;
Vuissoz, Jean‐Marc
;
Eggimann, Sandra
...
Journal of Inherited Metabolic Disease. 35 (2011) 1 - p. 133-140 , 2011
Link:
https://doi.org/10.1007/..
?
8
Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutat..:
Ngai, Ying Fai
;
Chijiwa, Chieko
;
Mercimek‐Mahmutoglu, Saadet
...
American Journal of Medical Genetics Part A. 152A (2010) 11 - p. 2784-2790 , 2010
Link:
https://doi.org/10.1002/..
?
9
Folinic acid–responsive seizures are identical to pyridoxin..:
Gallagher, Renata C.
;
Van Hove, Johan L. K.
;
Scharer, Gunter
...
Annals of Neurology. 65 (2009) 5 - p. 550-556 , 2009
Link:
https://doi.org/10.1002/..
?
10
Fright is a provoking factor in vanishing white matter dise..:
Vermeulen, Gerre
;
Seidl, Rainer
;
Mercimek‐Mahmutoglu, Saadet
...
Annals of Neurology. 57 (2005) 4 - p. 560-563 , 2005
Link:
https://doi.org/10.1002/..
?
11
Long-term outcome of patients with X-linked adrenoleukodyst..:
Tran, Christel
;
Patel, Jaina
;
Stacy, Hewson
...
European Journal of Paediatric Neurology. 21 (2017) 4 - p. 600-609 , 2017
Link:
https://doi.org/10.1016/..
?
12
A New Patient With Intermediate Severe Salla Disease With H..:
Barmherzig, Rebecca
;
Bullivant, Garrett
;
Cordeiro, Dawn
...
Pediatric Neurology. 74 (2017) - p. 87-91.e2 , 2017
Link:
https://doi.org/10.1016/..
?
13
Nomenclature of genetic movement disorders: Recommendations..:
Marras, Connie
;
Lang, Anthony
;
van de Warrenburg, Bart P.
...
Movement Disorders. 32 (2017) 5 - p. 724-725 , 2017
Link:
https://doi.org/10.1002/..
?
14
Phenotypic and genotypic spectrum of congenital disorders o..:
Al Teneiji, Amal
;
Bruun, Theodora U.J.
;
Sidky, Sarah
...
Molecular Genetics and Metabolism. 120 (2017) 3 - p. 235-242 , 2017
Link:
https://doi.org/10.1016/..
?
15
Epileptic Encephalopathy in Childhood: A Stepwise Approach ..:
Patel, Jaina
;
Mercimek-Mahmutoglu, Saadet
The Indian Journal of Pediatrics. 83 (2016) 10 - p. 1164-1174 , 2016
Link:
https://doi.org/10.1007/..
1-15