Detalhe da pesquisa
1.
Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem and Progenitor Cells for Therapeutic Genomic Rearrangements.
Mol Ther
; 27(1): 137-150, 2019 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30424953
2.
Early Acute Microvascular Kidney Transplant Rejection in the Absence of Anti-HLA Antibodies Is Associated with Preformed IgG Antibodies against Diverse Glomerular Endothelial Cell Antigens.
J Am Soc Nephrol
; 30(4): 692-709, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850439
3.
Heterozygous Mutations in MAP3K7, Encoding TGF-ß-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
Am J Hum Genet
; 99(2): 407-13, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426734
4.
APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.
Nephrol Dial Transplant
; 34(11): 1885-1893, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29992269
5.
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.
Clin Immunol
; 188: 52-57, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330115
6.
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
Am J Med Genet A
; 176(1): 181-186, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159987
7.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 28(10): 2901-2914, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28566479
8.
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Am J Hum Genet
; 94(6): 905-14, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24882706
9.
Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.
Hum Mutat
; 36(2): 187-90, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504470
10.
Somatic genetic rescue of a germline ribosome assembly defect.
Nat Commun
; 12(1): 5044, 2021 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413298
11.
Loss of ARHGEF1 causes a human primary antibody deficiency.
J Clin Invest
; 129(3): 1047-1060, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30521495
12.
CE-SSCP and CE-FLA, simple and high-throughput alternatives for fungal diversity studies.
J Microbiol Methods
; 72(1): 42-53, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18054096
13.
Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders.
Mol Autism
; 9: 38, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29951184
14.
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
Birth Defects Res
; 110(6): 538-542, 2018 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29316359
15.
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
Eur J Hum Genet
; 26(3): 340-349, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330547
16.
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.
J Crohns Colitis
; 12(9): 1104-1112, 2018 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29788237
17.
Phylogenetic analysis of the Aspergillus niger aggregate in relation to feruloyl esterase activity.
Res Microbiol
; 158(5): 413-9, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17531445
18.
Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect.
Nat Commun
; 13(1): 3574, 2022 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35732670
19.
Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study.
J Crohns Colitis
; 15(3): 517-518, 2021 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895718
20.
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Nat Neurosci
; 18(12): 1731-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26571461