Detalhe da pesquisa
1.
The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.
Clin Genet
; 94(5): 450-456, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30006928
2.
Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.
Clin Genet
; 90(4): 293-304, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27234264
3.
Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.
Neurol Neurochir Pol
; 47(4): 319-24, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23986421
4.
A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.
Clin Genet
; 88(3): 297-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25394356
5.
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.
Folia Neuropathol
; 54(1): 59-65, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27179222
6.
Erythrocyte glucose-6-phosphate dehydrogenase deficiency in Poland--a study on the 563 and 1311 mutations of the G6PD gene.
Eur J Hum Genet
; 5(1): 22-4, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-9156317
7.
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.
Eur J Hum Genet
; 9(11): 836-42, 2001 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11781700
8.
[Autosomal dominant spinocerebellar ataxia]. / Autosomalny dominujacy bezlad rdzeniowo-mózdzkowy.
Neurol Neurochir Pol
; 33(3): 633-43, 1999.
Artigo
em Polonês
| MEDLINE | ID: mdl-10540724
9.
[Detecting carriers of a deletion in the dystrophin gene in families with a single case of Duchenne/Becker muscular dystrophy]. / Wykrywanie nosicielek delecji w genie dystrofiny w rodzinach z izolowanym przypadkiem dystrofii miesniowej Duchenne'a/Beckera.
Neurol Neurochir Pol
; 33(6): 1261-7, 1999.
Artigo
em Polonês
| MEDLINE | ID: mdl-10791028
10.
[Clinical picture of spinocerebellar ataxia type I (SCA1)]. / Obraz kliniczny bezladu rdzeniowo-mózdzkowego typu I (SCA1).
Neurol Neurochir Pol
; 35(6): 993-1011, 2001.
Artigo
em Polonês
| MEDLINE | ID: mdl-11987714
11.
Differences in risk factors for dementia with neurodegenerative traits and for vascular dementia.
Dement Geriatr Cogn Disord
; 22(1): 1-7, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16645274
12.
Structure and evolution of 5S rRNA genes and pseudogenes in the genus Aspergillus.
J Mol Evol
; 33(2): 175-8, 1991 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-1920453
13.
[Juvenile form of Huntington's disease--diagnostic problems]. / Dziecieca i mlodziencza postac choroby Huntingtona--problemy diagnostyczne.
Med Wieku Rozwoj
; 3(1): 123-32, 1999.
Artigo
em Polonês
| MEDLINE | ID: mdl-10910644