Detalhe da pesquisa
1.
Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.
Pediatr Dev Pathol
; 25(6): 581-597, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35695198
2.
Lineage Switch in an Infant B-Lymphoblastic Leukemia With t(1;11)(p32;q23); KMT2A/EPS15, Following Blinatumomab Therapy.
Pediatr Dev Pathol
; 24(4): 378-382, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749383
3.
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Eur J Hum Genet
; 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760421
4.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
medRxiv
; 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496498
5.
Somatic activating BRAF variants cause isolated lymphatic malformations.
HGG Adv
; 3(2): 100101, 2022 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373151