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/vufind/Search/Results?lookfor=%22Couse%2C+Madeline%22&type=Person&sort=year
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PubPharm (32)
1
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Del Gobbo, G.
|
Wang, X.
|
Couse, M.
| +13
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2
Leveraging cancer mutation data to predict the pathogenicity of germline missense variants
enthalten in:
bioRxiv.org
| 2024
von
Haque, B.
|
Cheerie, D.
|
Pan, A.
| +14
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3
RNA sequencing reveals deep intronic CEP120 variant : A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Marshall, A.
|
Lemire, G.
|
Liang, Y.
| +5
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4
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach
enthalten in:
American journal of medical genetics. Part A
| 2024
von
de Kock, L.
|
Cuillerier, A.
|
Gillespie, M.
| +20
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5
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
enthalten in:
Journal of human genetics
| 2024
von
Marshall, A.
|
Liang, Y.
|
Couse, M.
| +21
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6
Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Kock, L.
|
Cuillerier, A.
|
Gillespie, M.
| +19
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7
RNA sequencing reveals deep intronic CEP120 variant : A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Marshall, A.
|
Lemire, G.
|
Liang, Y.
| +4
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8
Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46, XY differences of sexual development
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Del Gobbo, G.
|
Wang, X.
|
Couse, M.
| +12
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9
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction
enthalten in:
Neurology. Genetics
| 2023
von
Warman-Chardon, J.
|
Hartley, T.
|
Marshall, A.
| +14
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10
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3 : Case report
enthalten in:
Molecular genetics & genomic medicine
| 2023
von
Marshall, A.
|
MacDonald, S.
|
Liang, Y.
| +5
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American Journal of Medical Genetics Part C: Se...
4
American journal of medical genetics. Part A
3
BMC genomics
3
bioRxiv.org
2
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2
The Journal of rheumatology
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Journal of chromatography / A
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1
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bioRxiv : the preprint server for biology
1
eLife
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11
Research Support, Non-U.S. Gov't
4
Case Reports
3
1q43 microdeletion
3
570
3
Biology
3
Genome assembly
3
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3
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2
exome sequencing
2
genetic studies
2
genomics
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matchmaking
2
reanalysis
1
2776-93-4
1
9007-49-2
1
ARID1B
1
ATRX protein, human
1
Acetylglucosamine
1
Aspartylglycosamine
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Erscheinungszeitraum
25
2020-
7
2010-2019
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25
Englisch
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