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1.
History and highlights of the teratological collection in the Narrenturm, Vienna (Austria).
Am J Med Genet A
; 191(5): 1301-1324, 2023 05.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36927364
5.
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.
Front Neurosci
; 17: 1123327, 2023.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34974531
7.
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Genes (Basel)
; 13(1)2022 01 15.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-20375726
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