Detalhe da pesquisa
1.
CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.
Nature
; 559(7713): 285-289, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29973717
2.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Am J Hum Genet
; 104(5): 957-967, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006512
3.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Am J Hum Genet
; 103(6): 1038-1044, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503519
4.
Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.
Blood
; 128(24): 2824-2833, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27663672
5.
Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.
J Am Soc Nephrol
; 28(4): 1084-1091, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974406
6.
A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.
J Am Soc Nephrol
; 27(6): 1617-24, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26490391
7.
Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.
J Am Soc Nephrol
; 25(11): 2425-33, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24722444
8.
Genetic findings in short Turkish children born to consanguineous parents.
Horm Res Paediatr
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838658
9.
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.
Nat Genet
; 51(1): 96-105, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30478443
10.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Nat Genet
; 49(4): 537-549, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28191891
11.
Patient stratification and therapy in atypical haemolytic uraemic syndrome (aHUS).
Immunobiology
; 221(6): 715-8, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26037115
12.
Characterization of 15 STR cannabis loci: nomenclature proposal and SNPSTR haplotypes.
Forensic Sci Int Genet
; 9: 61-5, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24528581