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Buiting, Karin
149  results:
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1

Renal X-inactivation in female individuals with X-linked Al..:

Günthner, Roman ; Knipping, Lea ; Jeruschke, Stefanie...
Frontiers in Medicine.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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2

Cover:

Sassi, Hela ; Elaribi, Yasmina ; Jilani, Houweyda...
Molecular Genetics & Genomic Medicine.  9 (2021)  10 - p. , 2021
Link: https://doi.org/10.1002/..
 
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3

Beckwith–Wiedemann syndrome: Clinical, histopathological an..:

Sassi, Hela ; Elaribi, Yasmina ; Jilani, Houweyda...
Molecular Genetics & Genomic Medicine.  9 (2021)  10 - p. , 2021
Link: https://doi.org/10.1002/..
 
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4

Common genetic variation in the Angelman syndrome imprintin..:

Beygo, Jasmin ; Grosser, Christian ; Kaya, Sabine...
European Journal of Human Genetics.  28 (2020)  6 - p. 835-839 , 2020
Link: https://doi.org/10.1038/..
 
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5

Disruption of KCNQ1 prevents methylation of the ICR2 and su..:

Beygo, Jasmin ; Bürger, Joachim ; Strom, Tim M...
European Journal of Human Genetics.  27 (2019)  6 - p. 903-908 , 2019
Link: https://doi.org/10.1038/..
 
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6

Update of the EMQN/ACGS best practice guidelines for molecu..:

Beygo, Jasmin ; Buiting, Karin ; Ramsden, Simon C....
European Journal of Human Genetics.  27 (2019)  9 - p. 1326-1340 , 2019
Link: https://doi.org/10.1038/..
 
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7

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With..:

Munteanu, Martin ; Kiewert, Cordula ; Matar, Nora...
Journal of the Endocrine Society.  3 (2019)  7 - p. 1383-1389 , 2019
Link: https://doi.org/10.1210/..
 
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8

Recommendations for a nomenclature system for reporting met..:

Monk, David ; Morales, Joannella ; den Dunnen, Johan T....
Epigenetics.  13 (2018)  2 - p. 117-121 , 2018
Link: https://doi.org/10.1080/..
 
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9

The origin of imprinting defects in Temple syndrome and com..:

Beygo, Jasmin ; Mertel, Claudia ; Kaya, Sabine...
Epigenetics.  13 (2018)  8 - p. 822-828 , 2018
Link: https://doi.org/10.1080/..
 
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10

The maternal uniparental disomy of chromosome 6 (upd(6)mat)..:

Eggermann, Thomas ; Oehl‐Jaschkowitz, Barbara ; Dicks, Severin...
Molecular Genetics & Genomic Medicine.  5 (2017)  6 - p. 668-677 , 2017
Link: https://doi.org/10.1002/..
 
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11

Atypical Angelman syndrome due to a mosaic imprinting defec..:

Le Fevre, Anna ; Beygo, Jasmin ; Silveira, Cheryl...
American Journal of Medical Genetics Part A.  173 (2017)  3 - p. 753-757 , 2017
Link: https://doi.org/10.1002/..
 
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12

New insights into the imprinted MEG8-DMR in 14q32 and clini..:

Beygo, Jasmin ; Küchler, Alma ; Gillessen-Kaesbach, Gabriele...
European Journal of Human Genetics.  25 (2017)  8 - p. 935-945 , 2017
Link: https://doi.org/10.1038/..
 
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13

Novel microdeletions on chromosome 14q32.2 suggest a potent..:

van der Werf, Ilse M ; Buiting, Karin ; Czeschik, Christina...
European Journal of Human Genetics.  24 (2016)  12 - p. 1724-1729 , 2016
Link: https://doi.org/10.1038/..
 
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14

A maternal deletion upstream of the imprint control region ..:

Beygo, Jasmin ; Joksic, Ivana ; Strom, Tim M...
European Journal of Human Genetics.  24 (2016)  9 - p. 1280-1286 , 2016
Link: https://doi.org/10.1038/..
 
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15

EMQN best practice guidelines for the molecular genetic tes..:

Eggermann, Katja ; Bliek, Jet ; Brioude, Frédéric...
European Journal of Human Genetics.  24 (2016)  10 - p. 1377-1387 , 2016
Link: https://doi.org/10.1038/..
 
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