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1.
Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening.
Prenat Diagn
; 43(2): 213-225, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36617980
2.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
J Med Genet
; 59(8): 748-758, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34740920
3.
Experiences of receiving an increased chance of sex chromosome aneuploidy result from non-invasive prenatal testing in Australia: "A more complicated scenario than what I had ever realized".
J Genet Couns
; 32(1): 213-223, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36114608
4.
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Genet Med
; 20(5): 513-523, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29261177
5.
Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Genet Med
; 20(11): 1485, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29388943
6.
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Genet Med
; 20(12): 1554-1563, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29543227
7.
Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences.
J Pers Med
; 12(8)2022 Jul 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-36013198
8.
c-Src inactivation reduces renal epithelial cell-matrix adhesion, proliferation, and cyst formation.
Am J Physiol Cell Physiol
; 301(2): C522-9, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21508333
9.
The acute management of intracerebral hemorrhage: a clinical review.
Anesth Analg
; 110(5): 1419-27, 2010 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-20332192
10.
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
J Neurodev Disord
; 11(1): 41, 2019 12 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-31878865
11.
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Mol Autism
; 10: 21, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31073396
12.
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.
Sci Rep
; 8(1): 3644, 2018 02 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-29483611
13.
Mouse embryonic stem cell-derived embryoid bodies generate progenitors that integrate long term into renal proximal tubules in vivo.
J Am Soc Nephrol
; 18(6): 1709-20, 2007 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-17475814
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