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1.
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution.
Hum Genomics
; 17(1): 10, 2023 02 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-36782285
2.
Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
Eur J Endocrinol
; 190(4): 296-306, 2024 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38561929
3.
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
BMC Med Genomics
; 16(1): 303, 2023 11 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38012624
4.
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
Orphanet J Rare Dis
; 17(1): 33, 2022 02 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35109910
5.
New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?
BMJ Open Gastroenterol
; 9(1)2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36572455
6.
A novel COLEC10 mutation in a child with 3MC syndrome.
Eur J Med Genet
; 64(12): 104374, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34740859
7.
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
J Nephrol
; 34(5): 1767-1781, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-33226606
8.
Bidirectional linkage between the B-cell receptor and NOTCH1 in chronic lymphocytic leukemia and in Richter's syndrome: therapeutic implications.
Leukemia
; 34(2): 462-477, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31467429
9.
Correction: Bidirectional linkage between the B-cell receptor and NOTCH1 in chronic lymphocytic leukemia and in Richter's syndrome: therapeutic implications.
Leukemia
; 34(6): 1721, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-31836851
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