Detalhe da pesquisa
1.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
2.
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Hum Mol Genet
; 28(16): 2720-2737, 2019 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31042281
3.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Am J Hum Genet
; 101(6): 1006-1012, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198720
4.
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.
J Pediatr
; 223: 207-211.e1, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32423680
5.
No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.
J Med Genet
; 54(5): 324-329, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28069933
6.
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.
J Clin Immunol
; 37(7): 715-726, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28842786
7.
First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease.
Gastroenterology
; 153(2): 609-611.e3, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28683258
8.
Somatic genetic rescue of a germline ribosome assembly defect.
Nat Commun
; 12(1): 5044, 2021 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413298
9.
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