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1.
The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review.
Genet Med
; 24(9): 1803-1813, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35659827
2.
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Mol Genet Metab
; 137(1-2): 62-67, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35926322
3.
Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al.
Genet Med
; 24(5): 1158-1161, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35168887
4.
Scaling-up and future sustainability of a national reproductive genetic carrier screening program.
NPJ Genom Med
; 8(1): 18, 2023 Jul 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-37524740
5.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
J Pers Med
; 12(11)2022 Oct 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-36579509
6.
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Eur J Hum Genet
; 29(1): 79-87, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32678339
7.
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Neurology
; 96(13): e1770-e1782, 2021 03 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-33568551
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