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Nõukas, Margit
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1

The genetic basis of endometriosis and comorbidity with oth..:

Rahmioglu, Nilufer ; Mortlock, Sally ; Ghiasi, Marzieh...
Nature Genetics.  55 (2023)  3 - p. 423-436 , 2023
Link: https://doi.org/10.1038/..
 
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2

The Prevalence and Molecular Landscape of Lynch Syndrome in..:

Roht, Laura ; Laidre, Piret ; Tooming, Mikk...
Cancers.  15 (2023)  14 - p. 3663 , 2023
Link: https://doi.org/10.3390/..
 
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3

P536: 2q11.2 recurrent CNVs including TMEM127: A collaborat..:

Pizzo, Lucilla ; Lewis, Zoe ; Walsh, Lauren...
Genetics in Medicine Open.  1 (2023)  1 - p. 100583 , 2023
Link: https://doi.org/10.1016/..
 
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4

Precise, Genotype-First Breast Cancer Prevention: Experienc..:

Jürgens, Hannes ; Roht, Laura ; Leitsalu, Liis...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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5

Do Biobank Recall Studies Matter? Long-Term Follow-Up of Re..:

Nurm, Miriam ; Reigo, Anu ; Nõukas, Margit...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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6

A cross-disorder dosage sensitivity map of the human genome:

Collins, Ryan L. ; Glessner, Joseph T. ; Porcu, Eleonora...
Cell.  185 (2022)  16 - p. 3041-3055.e25 , 2022
Link: https://doi.org/10.1016/..
 
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7

Omics-informed CNV calls reduce false-positive rates and im..:

Lepamets, Maarja ; Auwerx, Chiara ; Nõukas, Margit...
Human Genetics and Genomics Advances.  3 (2022)  4 - p. 100133 , 2022
Link: https://doi.org/10.1016/..
 
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8

Spectrum and frequency of CHEK2 variants in breast cancer a..:

Pavlovica, Kristine ; Irmejs, Arvids ; Noukas, Margit...
European Journal of Medical Genetics.  65 (2022)  5 - p. 104477 , 2022
Link: https://doi.org/10.1016/..
 
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9

Lessons learned during the process of reporting individual ..:

Leitsalu, Liis ; Reigo, Anu ; Palover, Marili...
European Journal of Human Genetics.  31 (2022)  9 - p. 1048-1056 , 2022
Link: https://doi.org/10.1038/..
 
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10

Identification of ALK in Thinness:

Orthofer, Michael ; Valsesia, Armand ; Mägi, Reedik...
Cell.  181 (2020)  6 - p. 1246-1262.e22 , 2020
Link: https://doi.org/10.1016/..
 
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11

Diverse phenotype in patients with complex I deficiency due..:

Reinson, Karit ; Kovacs-Nagy, Reka ; Õiglane-Shlik, Eve...
European Journal of Medical Genetics.  62 (2019)  11 - p. 103572 , 2019
Link: https://doi.org/10.1016/..
 
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12

CNV-association meta-analysis in 191,161 European adults re..:

Macé, Aurélien ; Tuke, Marcus A. ; Deelen, Patrick...
Nature Communications.  8 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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13

C14orf132 gene is possibly related to extremely low birth w..:

Tiirats, Airi ; Viltrop, Triin ; Nõukas, Margit...
BMC Genetics.  17 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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14

De novo exonic mutation in MYH7 gene leading to exon skippi..:

Pajusalu, Sander ; Talvik, Inga ; Noormets, Klari...
Neuromuscular Disorders.  26 (2016)  3 - p. 236-239 , 2016
Link: https://doi.org/10.1016/..
 
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15

Syndromic intellectual disability: A new phenotype caused b..:

Graziano, Claudio ; Wischmeijer, Anita ; Pippucci, Tommaso...
Gene.  559 (2015)  2 - p. 144-148 , 2015
Link: https://doi.org/10.1016/..
 
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