Risultati della ricerca - C. Umit
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1
EP07.64: Isolated agnathia–otocephaly complex: a rare case
Pubblicazione 2024Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
2
EP06.59: Prenatal diagnosis a rare case of fetal‐onset IPEX syndrome with recurrent hydrops fetalis
Pubblicazione 2024Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
3
EP05.41: Alpha thalassemia major and malformation of cortical development: is it an incidental finding or truly related?
Pubblicazione 2024Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
4
EP05.52: New phenotype caused by novel compound heterozygous RARS2 or coincidence?
Pubblicazione 2024Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
5
EP18.26: Prenatal diagnosis a rare case of LEOPARD syndrome with double aortic arch caused by uncommon mutation of PTPN11
Pubblicazione 2024Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
6
EP18.02: Prenatal diagnosis of a rare case of Meckel Gruber syndrome type 3 using first trimester ultrasound and exome sequencing
Pubblicazione 2024Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso