E-LIB Suche - Ergebnisse für: Downie, Lilian

1

Prospective cohort study of genomic newborn screening: Baby..:

Lunke, Sebastian ; Bouffler, Sophie E ; Downie, Lilian...
BMJ Open. 14 (2024) 4 - p. e081426 , 2024

Link: https://doi.org/10.1136/..

2

Australian Public Perspectives on Genomic Newborn Screening..:

Lynch, Fiona ; Best, Stephanie ; Gaff, Clara...
International Journal of Neonatal Screening. 10 (2024) 1 - p. 6 , 2024

Link: https://doi.org/10.3390/..

3

Australian public perspectives on genomic newborn screening..:

Lynch, Fiona ; Best, Stephanie ; Gaff, Clara...
Human Genomics. 18 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

4

Gene selection for genomic newborn screening: Moving toward..:

Downie, Lilian ; Bouffler, Sophie E. ; Amor, David J....
Genetics in Medicine. 26 (2024) 5 - p. 101077 , 2024

Link: https://doi.org/10.1016/..

5

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine. 25 (2023) 10 - p. 100927 , 2023

Link: https://doi.org/10.1016/..

6

Correction: Genetic aetiologies for childhood speech disord..:

Kaspi, Antony ; Hildebrand, Michael S. ; Jackson, Victoria E....
Molecular Psychiatry. 28 (2023) 4 - p. 1664-1666 , 2023

Link: https://doi.org/10.1038/..

7

Prenatal diagnosis of cleft lip and/or palate: What do we t..:

Wilkes, Courtney ; Graetz, Melissa ; Downie, Lilian..
Prenatal Diagnosis. 43 (2023) 10 - p. 1310-1319 , 2023

Link: https://doi.org/10.1002/..

8

Two-step offer and return of multiple types of additional g..:

Bouffler, Sophie E ; Lee, Ling ; Lynch, Fiona...
BMJ Open. 13 (2023) 6 - p. e072999 , 2023

Link: https://doi.org/10.1136/..

9

An incidental finding in prenatal exome sequencing—A case s..:

Rudd, Ignatius ; Gill, Gulvir ; Buckley, Michael.
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2856-2859 , 2023

Link: https://doi.org/10.1002/..

10

Feasibility of Targeted Next-Generation DNA Sequencing for ..:

Shum, Bennett Oh Vic ; Pretorius, Carel Jacobus ; Sng, Letitia Min Fen...
Clinical Chemistry. 69 (2023) 8 - p. 890-900 , 2023

Link: https://doi.org/10.1093/..

11

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine. 25 (2023) 11 - p. 100964 , 2023

Link: https://doi.org/10.1016/..

12

Genetic aetiologies for childhood speech disorder: novel pa..:

Kaspi, Antony ; Hildebrand, Michael S. ; Jackson, Victoria E....
Molecular Psychiatry. , 2022

Link: https://doi.org/10.1038/..

13

Standardized practices for RNA diagnostics using clinically..:

Bournazos, Adam M. ; Riley, Lisa G. ; Bommireddipalli, Shobhana...
Genetics in Medicine. 24 (2022) 1 - p. 130-145 , 2022

Link: https://doi.org/10.1016/..

14

Predictors of Early Language Outcomes in Children with Conn..:

Holzinger, Daniel ; Dall, Magdalena ; Kiblböck, Sandra...
Children. 9 (2022) 7 - p. 990 , 2022

Link: https://doi.org/10.3390/..

15

Comparing saliva and blood for the detection of mosaic geno..:

Francis, David I. ; Stark, Zornitza ; Scheffer, Ingrid E....
European Journal of Human Genetics. 31 (2022) 5 - p. 521-525 , 2022

Link: https://doi.org/10.1038/..