Detalhe da pesquisa
1.
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.
Blood
; 139(16): 2534-2546, 2022 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35030251
2.
Effects of postoperative oral elemental nutritional supplement on skeletal muscle loss after gastrectomy for gastric cancer.
Int J Clin Oncol
; 29(3): 266-275, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38227091
3.
Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.
J Hum Genet
; 68(11): 751-757, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37423943
4.
Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements.
Am J Med Genet A
; 191(1): 112-119, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36282026
5.
Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features.
Am J Med Genet A
; 191(2): 400-407, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36345653
6.
Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.
Am J Med Genet A
; 191(6): 1632-1638, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36916329
7.
Juvenile Hemochromatosis With Non-transfused Hemolytic Anemia Caused by a De Novo PIEZO1 Gene Mutation.
J Pediatr Hematol Oncol
; 45(4): e510-e513, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36898020
8.
Root angle modifications by the DRO1 homolog improve rice yields in saline paddy fields.
Proc Natl Acad Sci U S A
; 117(35): 21242-21250, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817523
9.
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.
Am J Hum Genet
; 103(3): 440-447, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30146126
10.
Designation Products: Boron Neutron Capture Therapy for Head and Neck Carcinoma.
Oncologist
; 26(7): e1250-e1255, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33928712
11.
A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.
J Pediatr Hematol Oncol
; 43(2): e250-e254, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32287101
12.
Preoperative autologous blood donation for kidney transplant and end-stage renal disease patients: A single-center study.
Transfus Apher Sci
; 60(4): 103149, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34148766
13.
Enzymatic Changes in Red Blood Cells of Diamond-Blackfan Anemia.
Tohoku J Exp Med
; 255(1): 49-55, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34526430
14.
[Diagnosis of congenital hemolytic anemia by comprehensive gene analysis: significance and limitations].
Rinsho Ketsueki
; 62(5): 472-479, 2021.
Artigo
em Japonês
| MEDLINE | ID: mdl-34248124
15.
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.
Am J Med Genet A
; 182(3): 521-526, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31821719
16.
Unexplained Late-Onset Hemolytic Jaundice Preceded by High Fetal Hemoglobin Level in an Extremely Low Birth Weight Infant.
Clin Lab
; 66(1)2020 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32013358
17.
[Hereditary hemolytic anemia in newborns: clinical significance of genetic diagnosis].
Rinsho Ketsueki
; 61(5): 484-490, 2020.
Artigo
em Japonês
| MEDLINE | ID: mdl-32507813
18.
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Am J Hematol
; 94(1): 149-161, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30358897
19.
Severe ß-thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia.
Pediatr Blood Cancer
; 70(12): e30706, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794572
20.
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Genet Med
; 19(7): 796-802, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28102861