Detalhe da pesquisa
1.
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
J Allergy Clin Immunol
; 152(3): 736-747, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277074
2.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(5): 986-998, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101336
3.
Eltrombopag in children with severe aplastic anemia.
Pediatr Blood Cancer
; 68(8): e29066, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33855784
4.
Pure Bladder Malignant Rhabdoid Tumor Successfully Treated With Partial Cystectomy, Radiation, and Chemotherapy: A Case Report and Review of the Literature.
J Pediatr Hematol Oncol
; 43(8): e1214-e1216, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33031160
5.
RGL2 Deficiency Impairs Human Erythropoiesis By Altering Terminal Erythroid Differentiation and Apoptosis.
Blood
; 130(Suppl_1): 8, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31940662
6.
Evans syndrome in the background of 22q11.2 deletion syndrome.
Pediatr Blood Cancer
; 71(7): e31049, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711190
7.
Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.
Hum Mutat
; 39(3): 389-393, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29288557
8.
The genetic landscape of familial congenital hydrocephalus.
Ann Neurol
; 81(6): 890-897, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28556411
9.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(9): 1991, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36063163
10.
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
J Exp Med
; 221(6)2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38563820
11.
Utilizing Multilingual Methods and Rapid Analysis for Global Qualitative Research During a Pandemic.
Glob Qual Nurs Res
; 9: 23333936221080969, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35237707
12.
Secondary Sarcomas: Biology, Presentation, and Clinical Care.
Am Soc Clin Oncol Educ Book
; 40: 1-12, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32213089
13.
CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
Pediatr Neurol
; 93: 43-49, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30686628
14.
Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
Clin Epigenetics
; 11(1): 60, 2019 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30961659
15.
Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
J Exp Med
; 221(6)2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38709237
16.
Exceptional complex chromosomal rearrangements in three generations.
Case Rep Genet
; 2015: 321014, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25722897