Laboratory of Medical Genetics Unit - Submitter

Laboratory of Medical Genetics Unit (Bambino Gesù Children's Hospital), OPBG

Laboratory of Medical Genetics Unit, OPBG
Bambino Gesù Children's Hospital
Viale San Paolo 15
Roma
Lazio
Italy - 00146

Organization ID: 506277

Level: Assertion criteria provided

Total submissions: 91

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Name	Submissions	Last Updated
ALG12-congenital disorder of glycosylation	2	Jul 23, 2019
Astroblastoma, MN1-altered	2	Jul 14, 2023
Astrocytoma IDH-mutant	5	Jul 15, 2023
Autoinflammatory syndrome, familial, Behcet-like	1	Nov 5, 2021
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	1	Jan 19, 2023
Cerebral arteriovenous malformation	1	Jan 25, 2023
Diffuse hemispheric glioma, H3 G34-mutant	1	Jul 15, 2023
Diffuse midline glioma, H3 K27-altered	33	Jul 20, 2023
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	15	Jul 20, 2023
Early-onset myopathy with fatal cardiomyopathy	10	May 19, 2023
High-grade astrocytoma with piloid features	1	Jul 20, 2023
Hypermanganesemia with dystonia, polycythemia, and cirrhosis	1	Jan 3, 2024
Infant-type hemispheric glioma	1	Jul 14, 2023
Mismatch repair cancer syndrome 3	1	Jul 14, 2023
Neuroblastoma	2	Dec 3, 2023
Neurodevelopmental delay	3	Feb 24, 2022
Neuroepithelial tumor, PATZ1 fusion-positive	2	Jul 14, 2023
Neurofibrmatosis type 1	1	Jul 20, 2023
Neurofibromatosis, type 1	3	Jul 20, 2023
POC1A-related syndrome	2	Oct 8, 2020
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	2	Aug 11, 2020
Silver-Russell syndrome 3	1	Dec 29, 2023