Detalhe da pesquisa
1.
Characterisation of FLT3 alterations in childhood acute lymphoblastic leukaemia.
Br J Cancer
; 130(2): 317-326, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38049555
2.
Comprehensive Genomic Analysis of Cemento-Ossifying Fibroma.
Mod Pathol
; 37(2): 100388, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37995913
3.
Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review.
Clin Genet
; 105(1): 13-33, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37927209
4.
Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.
Prenat Diagn
; 44(4): 389-397, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37991340
5.
Evaluation of out-of-pocket pay genetic testing in a publicly funded healthcare system.
Clin Genet
; 103(4): 424-433, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36504324
6.
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
J Med Genet
; 59(10): 931-937, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544840
7.
Effect of preexamination conditions in a centralized-testing model of non-invasive prenatal screening.
Clin Chem Lab Med
; 60(2): 183-190, 2022 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761647
8.
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Prenat Diagn
; 42(12): 1514-1524, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36068917
9.
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
10.
Out-of-pocket and private pay in clinical genetic testing: A scoping review.
Clin Genet
; 100(5): 504-521, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34080181
11.
Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered.
Prenat Diagn
; 41(10): 1316-1323, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33829520
12.
Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys.
Prenat Diagn
; 41(4): 465-477, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337554
13.
Directive clinique no 410 : Anomalies du tube neural : Prévention, dépistage, diagnostic et prise en charge de la grossesse.
J Obstet Gynaecol Can
; 43(1): 140-157.e8, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33212245
14.
Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects.
J Obstet Gynaecol Can
; 43(1): 124-139.e8, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33212246
15.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220674
16.
Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation.
Pediatr Dev Pathol
; 23(4): 306-311, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31771449
17.
Opinion de comité no 406 : Dépistage prénatal après FIV avec test génétique préimplantatoire des aneuploïdies.
J Obstet Gynaecol Can
; 42(11): 1444-1451.e1, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33189244
18.
Committee Opinion No. 406: Prenatal Testing After IVF With Preimplantation Genetic Testing for Aneuploidy.
J Obstet Gynaecol Can
; 42(11): 1437-1443.e1, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32830099
19.
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
J Hum Genet
; 64(4): 271-280, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670789
20.
Clinical response to dabrafenib and chemotherapy in clonally-related histiocytosis and acute lymphoblastic leukemia.
Haematologica
; 108(6): 1707-1712, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36384252