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X
Kirk, Edwin P
4033  Ergebnisse:
Personensuche X
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1

A systematic review and pooled analysis of penetrance estim..:

Goh, Shuxiang ; Thiyagarajan, Lavvina ; Dudding-Byth, Tracy..
Genetics in Medicine.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Short-read whole genome sequencing identifies causative var..:

Hall, Hildegard Nikki ; Parry, David ; Halachev, Mihail...
Journal of Medical Genetics.  , 2023
Link: https://doi.org/10.1136/..
 
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3

Should genes for non‐syndromic hearing loss be included in ..:

Freeman, Lucinda ; Bristowe, Lisa ; Kirk, Edwin P...
Journal of Genetic Counseling.  33 (2023)  3 - p. 566-577 , 2023
Link: https://doi.org/10.1002/..
 
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4

Quantitative trait and transcriptome analysis of genetic co..:

Patrick, Ralph ; Kirk, Edwin P ; Moradi Marjaneh, Mahdi...
eLife.  12 (2023)  - p. , 2023
Link: https://doi.org/10.7554/..
 
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5

Views of healthcare professionals on the inclusion of genes..:

Freeman, Lucinda ; Delatycki, Martin B. ; Scully, Jackie Leach..
European Journal of Human Genetics.  31 (2023)  5 - p. 548-554 , 2023
Link: https://doi.org/10.1038/..
 
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6

Response to Li and Sun:

Freeman, Lucinda ; Delatycki, Martin B. ; Scully, Jackie Leach.
Genetics in Medicine.  25 (2023)  1 - p. 157 , 2023
Link: https://doi.org/10.1016/..
 
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7

The Carrier Frequency of Two SMN1 Genes in Parents of Sympt..:

Davidson, Joanne E ; Russell, Jacqueline S ; Martinez, Noelia Nunez...
Genes.  14 (2023)  7 - p. 1403 , 2023
Link: https://doi.org/10.3390/..
 
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8

De Novo ZMYND8 variants result in an autosomal dominant neu..:

Dias, Kerith-Rae ; Carlston, Colleen M. ; Blok, Laura E.R....
Genetics in Medicine.  24 (2022)  9 - p. 1952-1966 , 2022
Link: https://doi.org/10.1016/..
 
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9

The views of people with a lived experience of deafness and..:

Freeman, Lucinda ; Righetti, Sarah ; Delatycki, Martin B...
Genetics in Medicine.  24 (2022)  9 - p. 1803-1813 , 2022
Link: https://doi.org/10.1016/..
 
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10

The relationship between beta-ureidopropionase deficiency d..:

Righetti, Sarah ; Allcock, Richard J.N. ; Yaplito-Lee, Joy...
Molecular Genetics and Metabolism.  137 (2022)  1-2 - p. 62-67 , 2022
Link: https://doi.org/10.1016/..
 
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11

Whole exome and genome sequencing in mendelian disorders: a..:

Ewans, Lisa J. ; Minoche, Andre E. ; Schofield, Deborah...
European Journal of Human Genetics.  30 (2022)  10 - p. 1121-1131 , 2022
Link: https://doi.org/10.1038/..
 
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12

Whole genome sequencing in transposition of the great arter..:

Blue, Gillian M. ; Mekel, Mauk ; Das, Debjani...
American Heart Journal.  244 (2022)  - p. 1-13 , 2022
Link: https://doi.org/10.1016/..
 
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13

Neonatal-lethal dilated cardiomyopathy due to a homozygous ..:

Yuen, Michaela ; Worgan, Lisa ; Iwanski, Jessika...
European Journal of Human Genetics.  30 (2022)  4 - p. 450-457 , 2022
Link: https://doi.org/10.1038/..
 
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14

Repeat Expansion Disorders: Bridging the Gap:

Kirk, Edwin P.
Clinical Chemistry.  68 (2022)  6 - p. 748-750 , 2022
Link: https://doi.org/10.1093/..
 
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15

Reproductive genetic carrier screening and inborn errors of..:

Kirk, Edwin P. ; Delatycki, Martin B. ; Laing, Nigel
Journal of Inherited Metabolic Disease.  45 (2022)  5 - p. 902-906 , 2022
Link: https://doi.org/10.1002/..
 
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