Detalhe da pesquisa
1.
[The Complexity of SARS-CoV-2 Infection in the Clinical Setting of Obstetrics - Discussion Based on a Case Study]. / Die Komplexität der SARS-CoV-2-Infektion im klinischen Alltag der Geburtshilfe Auseinandersetzung anhand eines Fallbeispiels.
Z Geburtshilfe Neonatol
; 226(6): 416-421, 2022 Dec.
Artigo
em Alemão
| MEDLINE | ID: mdl-36049778
2.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(8): 1426-1428, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451403
3.
The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(3): 511-523, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680123
4.
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
5.
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.
Am J Med Genet A
; 173(6): 1694-1697, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422407
6.
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Orphanet J Rare Dis
; 19(1): 114, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38475835
7.
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Prenat Diagn
; 33(1): 75-80, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161355
8.
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
9.
Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity.
Prenat Diagn
; 32(2): 173-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22418962
10.
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Eur J Hum Genet
; 30(1): 101-110, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697416
11.
Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.
J Bone Miner Res
; 36(6): 1077-1087, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596325
12.
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
13.
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
JCI Insight
; 4(3)2019 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30728324
14.
Severe facial clefts in acrofacial dysostosis: a consequence of prenatal exposure to mycophenolate mofetil?
Obstet Gynecol
; 111(2 Pt 2): 483-6, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18238994
15.
Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios.
Fetal Diagn Ther
; 23(3): 228-32, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18417983
16.
Double-outlet left ventricle in association with heterotaxy and left isomerism of the atrial appendages.
J Ultrasound Med
; 31(6): 965-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22644696
17.
Actin isoform expression patterns in adult extracardiac and cardiac rhabdomyomas indicate a different cell of origin.
Virchows Arch
; 470(3): 285-290, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28091730
18.
Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases.
Geburtshilfe Frauenheilkd
; 77(5): 495-507, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28579621
19.
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.
Pediatr Dev Pathol
; 15(1): 50-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-21711208
20.
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
Eur J Hum Genet
; 19(11): 1133-7, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21654728