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Freckmann, Mary-Louise
42  results:
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1

Integrated multi-omics for rapid rare disease diagnosis on ..:

Lunke, Sebastian ; Bouffler, Sophie E. ; Patel, Chirag V....
Nature Medicine.  29 (2023)  7 - p. 1681-1691 , 2023
Link: https://doi.org/10.1038/..
 
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2

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/..
 
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3

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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4

Correction: GATAD2B-associated neurodevelopmental disorder ..:

Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte...
Genetics in Medicine.  22 (2020)  4 - p. 822 , 2020
Link: https://doi.org/10.1038/..
 
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5

GATAD2B-associatedneurodevelopmental disorder (GAND): clini..:

Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte...
Genetics in Medicine.  22 (2020)  5 - p. 878-888 , 2020
Link: https://doi.org/10.1038/..
 
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6

A craniosynostosis massively parallel sequencing panel stud..:

Lee, Eric ; Le, Trang ; Zhu, Ying...
Genetics in Medicine.  20 (2018)  9 - p. 1061-1068 , 2018
Link: https://doi.org/10.1038/..
 
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7

Whole-exome sequencing reanalysis at 12 months boosts diagn..:

Ewans, Lisa J. ; Schofield, Deborah ; Shrestha, Rupendra...
Genetics in Medicine.  20 (2018)  12 - p. 1564-1574 , 2018
Link: https://doi.org/10.1038/..
 
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8

Genetic variation affecting DNA methylation and the human i..:

Dagar, Vinod ; Hutchison, Wendy ; Muscat, Andrea...
Clinical Epigenetics.  10 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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9

Next generation sequencing in a large cohort of patients pr..:

Todd, Emily J. ; Yau, Kyle S. ; Ong, Royston...
Orphanet Journal of Rare Diseases.  10 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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10

Diagnostic serum glycosylation profile in patients with int..:

Van Scherpenzeel, Monique ; Timal, Sharita ; Rymen, Daisy...
Brain.  137 (2014)  4 - p. 1030-1038 , 2014
Link: https://doi.org/10.1093/..
 
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11

Cauli: A Mouse Strain with an Ift140 Mutation That Results ..:

Miller, Kerry A. ; Ah-Cann, Casey J. ; Welfare, Megan F....
PLoS Genetics.  9 (2013)  8 - p. e1003746 , 2013
Link: https://doi.org/10.1371/..
 
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12

Variant non ketotic hyperglycinemia is caused by mutations ..:

Baker II, Peter R. ; Friederich, Marisa W. ; Swanson, Michael A....
Brain.  137 (2013)  2 - p. 366-379 , 2013
Link: https://doi.org/10.1093/..
 
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13

Azoospermia and paternal autosomal ring chromosomes: case r..:

Rajesh, Hemashree ; Freckmann, Mary-Louise ; Chapman, Michael
Reproductive BioMedicine Online.  23 (2011)  4 - p. 466-470 , 2011
Link: https://doi.org/10.1016/..
 
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14

Female heterozygotes for the hypomorphic R40H mutation can ..:

Pinner, Jason R ; Freckmann, Mary-Louise ; Kirk, Edwin P.
Journal of Medical Case Reports.  4 (2010)  1 - p. , 2010
Link: https://doi.org/10.1186/..
 
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15

Leigh disease caused by the mitochondrial DNA G14459A mutat..:

Kirby, Denise M. ; Kahler, Stephen G. ; Freckmann, Mary-Louise..
Annals of Neurology.  48 (2000)  1 - p. 102-104 , 2000
Link: https://doi.org/10.1002/..
 
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