Detalhe da pesquisa
1.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Clin Chem
; 70(5): 737-746, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531023
2.
Madrid Newborn Sickle Cell Disease Cohort: clinical outcomes, stroke prevention and survival.
Ann Hematol
; 103(2): 373-383, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37980280
3.
Fifteen years of newborn sickle cell disease screening in Madrid, Spain: an emerging disease in a European country.
Ann Hematol
; 99(7): 1465-1474, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451712
4.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat
; 40(5): 649-655, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740824
5.
Langerhans Cell Histiocytosis Presenting as Enterocolitis and Shock in Neonate.
J Pediatr Hematol Oncol
; 41(3): e155-e157, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30720676
6.
Genome-wide analysis of pediatric-type follicular lymphoma reveals low genetic complexity and recurrent alterations of TNFRSF14 gene.
Blood
; 128(8): 1101-11, 2016 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27257180
7.
Tumor-induced osteomalacia in an adolescent with an undifferentiated embryonal sarcoma of the liver.
Pediatr Blood Cancer
; 67(7): e28386, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32383825
8.
Initial report on Spanish pediatric oncologic, hematologic, and post stem cell transplantation patients during SARS-CoV-2 pandemic.
Pediatr Blood Cancer
; 67(9): e28557, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32672895
9.
Recent Evidence-Based Clinical Guide for the Use of Dinutuximab Beta in Pediatric Patients with Neuroblastoma.
Target Oncol
; 18(1): 77-93, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36504394
10.
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage.
Nat Cancer
; 2(6): 643-657, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164627
11.
[Safety and efficacy of the use of eltrombopag in a case of severe acquired bone marrow aplasia]. / Eficacia y seguridad en el uso del eltrombopag en un caso de aplasia medular adquirida grave.
An Pediatr (Engl Ed)
; 90(4): 246-247, 2019 Apr.
Artigo
em Espanhol
| MEDLINE | ID: mdl-29798814
12.
Eficacia y seguridad en el uso del eltrombopag en un caso de aplasia medular adquirida grave / Safety and efficacy of the use of eltrombopag in a case of severe acquired bone marrow aplasia
An. pediatr. (2003. Ed. impr.)
; 90(4): 246-247, abr. 2019. graf
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-186617
13.
[Therapeutic response to pyridoxine and pyridostigmine in a paediatric case of severe peripheral and cranial polyneuropathy due to vincristine]. / Respuesta terapeutica a piridoxina y piridostigmina en un caso pediatrico de polineuropatia periferica y craneal grave por vincristina.
Rev Neurol
; 60(2): 91-2, 2015 Jan 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-25583593
14.
Respuesta terapéutica a piridoxina y piridostigmina en un caso pediátrico de polineuropatía periférica y craneal grave por vincristina / Therapeutic response to pyridoxine and pyridostigmine in a paediatric case of severe peripheral and cranial polyneuropathy due to vincristine
Rev. neurol. (Ed. impr.)
; 60(2): 91-92, 16 ene., 2015. ilus
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-131722