Detalhe da pesquisa
1.
History and highlights of the teratological collection in the Narrenturm, Vienna (Austria).
Am J Med Genet A
; 191(5): 1301-1324, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36806455
2.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
; 99(3): 711-719, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545680
3.
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.
Am J Med Genet A
; 176(7): 1559-1568, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797497
4.
Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.
Orphanet J Rare Dis
; 18(1): 57, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927364
5.
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.
Front Neurosci
; 17: 1123327, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37179546
6.
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Eur J Hum Genet
; 30(4): 428-438, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34974531
7.
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Genes (Basel)
; 13(1)2022 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052493
8.
Urinary tract anomalies associated with MTHFR gene polymorphism C677T in girls.
Kidney Blood Press Res
; 34(6): 465-71, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21832841
9.
Methylenetetrahydrofolate reductase gene polymorphisms and neural tube defects epidemiology in the Slovak population.
Birth Defects Res A Clin Mol Teratol
; 88(8): 695-700, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20672355
10.
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.
Birth Defects Res
; 112(2): 175-185, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31840946
11.
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.
Mol Syndromol
; 9(6): 287-294, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30800044
12.
Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.
Bone
; 123: 48-55, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30316000
13.
Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 161(2): 152-157, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422192
14.
Genetic and biochemical study of dual hereditary jaundice: Dubin-Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2.
Eur J Hum Genet
; 24(5): 704-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350512
15.
Genetic and biochemical study of dual hereditary jaundice: Dubin-Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2.
Eur J Hum Genet
; 24(10): 1515, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27628566
16.
Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence.
Clin Dysmorphol
; 19(3): 107-118, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20375726