Detalhe da pesquisa
1.
Maternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review.
Arch Gynecol Obstet
; 301(5): 1139-1145, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219520
2.
First-trimester spontaneous pregnancy loss - molecular analysis using multiplex ligation-dependent probe amplification.
Clin Genet
; 89(5): 620-4, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26748861
3.
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
Clin Genet
; 90(3): 199-210, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27197572
4.
Specificity of sterol-glucosylating enzymes from Sinapis alba and Physarum polycephalum.
Biochim Biophys Acta
; 570(2): 363-70, 1979 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-497231
5.
Arylsulfatase A pseudodeficiency--incidence in Poland.
Eur J Hum Genet
; 4(5): 301-3, 1996.
Artigo
em Inglês
| MEDLINE | ID: mdl-8946177
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.
[Carrier's detection in families affected by Duchenne/Becker muscular dystrophy in which DNA from affected individuals is not available]. / Okreslanie nosicielstwa mutacji wywolujacej dystrofie miesniowa Duchenne'a/Beckera w rodzinach z niedostepnym DNA chorego.
Neurol Neurochir Pol
; 33(6): 1269-74, 1999.
Artigo
em Polonês
| MEDLINE | ID: mdl-10791029
8.
[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
9.
[Detection of dystrophin gene mutation carrier state]. / Wykrywanie nosicielstwa mutacji genu dystrofiny.
Neurol Neurochir Pol
; 30(2): 193-9; quiz 200, 1996.
Artigo
em Polonês
| MEDLINE | ID: mdl-8756246
10.
[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy]. / Wystepowanie delecji w obrebie genu dystrofiny w dystrofii miesniowej typu Duchenne'a i Backera.
Neurol Neurochir Pol
; 27(4): 469-78, 1993.
Artigo
em Polonês
| MEDLINE | ID: mdl-8247234
11.
[Germline mosaicism in a family with Duchenne muscular dystrophy]. / Mozaikowosc gonad w rodzinie z dystrofia miesniowa Duchenne'a.
Med Wieku Rozwoj
; 3(1): 133-7, 1999.
Artigo
em Polonês
| MEDLINE | ID: mdl-10910645
12.
Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.
Eur Neurol
; 44(2): 104-7, 2000.
Artigo
em Inglês
| MEDLINE | ID: mdl-10965162
13.
Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism.
Hum Mutat
; 14(6): 477-84, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10571945
14.
Detection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophy.
Eur J Neurol
; 4(2): 138-42, 1997 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24283906