Detalhe da pesquisa
1.
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 1807-1817, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140662
2.
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.
Genet Med
; 22(4): 785-792, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754268
3.
Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing.
Am J Med Genet A
; 164A(5): 1094-101, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24665052
4.
Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.
Hum Mutat
; 30(4): 548-56, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19177457
5.
De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder.
Eur J Med Genet
; 62(1): 55-60, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29753921
6.
Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients.
Am J Clin Pathol
; 141(5): 742-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24713750
7.
α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax.
Chest
; 141(1): 239-241, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22215832