Detalhe da pesquisa
1.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
2.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
3.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genet Med
; 20(1): 98-108, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28661489
4.
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet
; 54(12): 809-814, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28391250
5.
Children's Depression Screener (ChilD-S): development and validation of a depression screening instrument for children in pediatric care.
Child Psychiatry Hum Dev
; 43(1): 137-51, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21927969
6.
[Syllabus neuropediatrics structures, quality and perspectives of outpatient, inpatient and rehabilitative care version 2.0 (part 1)]. / Syllabus Neuropädiatrie Strukturen, Qualität und Perspektiven der ambulanten, stationären und rehabilitativen Versorgung-Version 2.0 (Teil 1).
Neuropediatrics
; 45(2): 133-6, 2014 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-24664974
7.
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Ann Clin Transl Neurol
; 6(4): 655-668, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019990
8.
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants.
Eur J Med Genet
; 61(6): 329-334, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29366874
9.
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial.
Seizure
; 56: 115-120, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29475094
10.
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
Neuromuscul Disord
; 17(9-10): 698-706, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17643989
11.
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
JIMD Rep
; 20: 65-75, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25626711
12.
A novel ATP1A3 mutation with unique clinical presentation.
J Neurol Sci
; 341(1-2): 133-5, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24713507
13.
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Neurology
; 82(11): 945-55, 2014 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-24523486
14.
Is the Children's Depression Inventory Short version a valid screening tool in pediatric care? A comparison to its full-length version.
J Psychosom Res
; 73(5): 369-74, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23062811
15.
eIF2B-related disorders: antenatal onset and involvement of multiple organs.
Am J Hum Genet
; 73(5): 1199-207, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14566705