Publications by authors named "K Buiting"

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Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.
Roman Günthner, Lea Knipping, Stefanie Jeruschke, Robin Satanoskij, Bettina Lorenz-Depiereux, Karin Buiting

Front Med (Lausanne)· October 2022

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Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Hela Sassi, Yasmina Elaribi, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Karin Buiting

Mol Genet Genomic Med· October 2021

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Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15.
Jasmin Beygo, Christian Grosser, Sabine Kaya, Claudia Mertel, Karin Buiting

Eur J Hum Genet· June 2020

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Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.
Jasmin Beygo, Karin Buiting, Simon C Ramsden, Rachael Ellis, Jill Clayton-Smith

Eur J Hum Genet· September 2019

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Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.
Martin Munteanu, Cordula Kiewert, Nora Matar, Berthold P Hauffa, Nicole Unger, Karin Buiting

J Endocr Soc· July 2019

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