Search details
1.
5p13 microduplication in a malformed fetus and his unaffected father.
Am J Med Genet A
; 191(2): 370-377, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36322476
2.
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
J Hum Genet
; 62(4): 465-471, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28003643
3.
Mitral Valve Repair of the Anterior Leaflet: Are We There Yet?
Hellenic J Cardiol
; 2024 Feb 13.
Article
in English
| MEDLINE | ID: mdl-38355045
4.
The association between metabolic syndrome and major adverse cardiac and cerebrovascular events in patients with acute coronary syndrome undergoing percutaneous coronary intervention.
Sci Rep
; 14(1): 697, 2024 01 06.
Article
in English
| MEDLINE | ID: mdl-38184738
5.
Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.
Sci Rep
; 11(1): 6952, 2021 03 26.
Article
in English
| MEDLINE | ID: mdl-33772059
6.
Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient.
Clin Case Rep
; 7(6): 1149-1153, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-31183084
7.
Chromosomal aberrations in pregnancy and fetal loss: Insight on the effect of consanguinity, review of 1625 cases.
Mol Genet Genomic Med
; 7(8): e820, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31210028
8.
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis.
Case Rep Genet
; 2017: 2706098, 2017.
Article
in English
| MEDLINE | ID: mdl-28133555
9.
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Eur J Hum Genet
; 23(6): 753-60, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25138099
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