Detalhe da pesquisa
1.
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.
J Med Genet
; 61(4): 405-409, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38050058
2.
Inositol-Exchange Activity in Human Primordial Placenta.
Int J Mol Sci
; 25(6)2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38542419
3.
Fetal hydrops caused by a novel pathogenic MECOM variant.
Prenat Diagn
; 43(6): 717-720, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37160698
4.
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Neuropathol Appl Neurobiol
; 48(2): e12771, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34648194
5.
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Brain
; 144(12): 3597-3610, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415310
6.
Diagnostic and perinatal outcomes in consanguineous couples with a structural fetal anomaly: A cohort study.
Acta Obstet Gynecol Scand
; 100(3): 418-424, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128783
7.
Evolution of a prenatal genetic clinic-A 10-year cohort study.
Prenat Diagn
; 40(5): 618-625, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32037575
8.
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Genet Med
; 21(5): 1065-1073, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293990
9.
Pathophysiological Mechanism of Extravasation via Umbilical Venous Catheters.
Pediatr Dev Pathol
; 22(4): 340-343, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30683018
10.
Cardiac, bone and growth plate manifestations in hypocalcemic infants: revealing the hidden body of the vitamin D deficiency iceberg.
BMC Pediatr
; 18(1): 183, 2018 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29940979
11.
Infantile rib fractures at autopsy: a marker of antemortem trauma or resuscitation artefact?
Histopathology
; 78(3): 371-372, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33617010
12.
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
Am J Hum Genet
; 86(3): 471-8, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206334
13.
Simplified local infill size optimization for FDM printed PLA parts.
Sci Rep
; 13(1): 5933, 2023 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37045904
14.
Part orientation optimization for Wire and Arc Additive Manufacturing process for convex and non-convex shapes.
Sci Rep
; 13(1): 2203, 2023 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36750748
15.
Concurrent shape and build orientation optimization for FDM additive manufacturing using the principal stress lines (PSL).
Heliyon
; 9(4): e15022, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37064485
16.
[Electromagnetic procedures in the treatment of pancreatic cancer: eminent or resentful?] / Elektromágneses eljárások a hasnyálmirigyrák kezelésében: eminens vagy renitens?
Magy Onkol
; 67(3): 194-201, 2023 Sep 28.
Artigo
em Húngaro
| MEDLINE | ID: mdl-38484317
17.
Pre-eclampsia is associated with complement pathway activation in the maternal and fetal circulation, and placental tissue.
Pregnancy Hypertens
; 32: 43-49, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088032
18.
Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families.
J Am Heart Assoc
; 12(17): e029100, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37589201
19.
SARS-COV2 placentitis and pregnancy outcome: A multicentre experience during the Alpha and early Delta waves of coronavirus pandemic in England.
EClinicalMedicine
; 47: 101389, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35465646
20.
Placental Tissue Destruction and Insufficiency From COVID-19 Causes Stillbirth and Neonatal Death From Hypoxic-Ischemic Injury.
Arch Pathol Lab Med
; 146(6): 660-676, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35142798