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Lausch, Ekkehart
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1

P338: Objectives and design of the Acorn Study: A non-inter..:

Pimenta, Jeanne ; Cohen, Shelda ; Mukherjee, Swati...
Genetics in Medicine Open.  1 (2023)  1 - p. 100366 , 2023
Link: https://doi.org/10.1016/..
 
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2

P339: Vosoritide therapy in patients with achondroplasia: E..:

Semler, Oliver ; Cormier-Daire, Valérie ; Lausch, Ekkehart...
Genetics in Medicine Open.  1 (2023)  1 - p. 100367 , 2023
Link: https://doi.org/10.1016/..
 
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3

Vosoritide Therapy in Children with Achondroplasia: Early E..:

Semler, Oliver ; Cormier-Daire, Valérie ; Lausch, Ekkehart...
Advances in Therapy.  41 (2023)  1 - p. 198-214 , 2023
Link: https://doi.org/10.1007/..
 
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4

Ttc30a affects tubulin modifications in a model for ciliary..:

Getwan, Maike ; Hoppmann, Anselm ; Schlosser, Pascal...
Proceedings of the National Academy of Sciences.  118 (2021)  39 - p. , 2021
Link: https://doi.org/10.1073/..
 
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5

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Ma..:

Schüle, Isabel ; Berger, Urs ; Matysiak, Uta...
Genes.  12 (2021)  6 - p. 879 , 2021
Link: https://doi.org/10.3390/..
 
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6

Isolated Hypomethylation of IGF2 Associated with Severe Hyp..:

Grünert, Sarah C. ; Matysiak, Uta ; Hodde, Franka...
Diagnostics.  11 (2021)  5 - p. 749 , 2021
Link: https://doi.org/10.3390/..
 
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7

Marfan Syndrome Caused by Disruption of the FBN1 Gene due t..:

Schnause, Anna Clara ; Komlosi, Katalin ; Herr, Barbara...
Genes.  12 (2021)  11 - p. 1836 , 2021
Link: https://doi.org/10.3390/..
 
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8

Uncovering pathways regulating chondrogenic differentiation..:

Chabronova, Alzbeta ; van den Akker, Guus G.H. ; Meekels-Steinbusch, Mandy M.F....
Non-coding RNA Research.  6 (2021)  4 - p. 211-224 , 2021
Link: https://doi.org/10.1016/..
 
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9

Hypomorphic mutations of TRIP11 cause odontochondrodysplasi:

Wehrle, Anika ; Witkos, Tomasz M. ; Unger, Sheila...
JCI Insight.  4 (2019)  3 - p. , 2019
Link: https://doi.org/10.1172/..
 
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10

Unsuccessful intravenous D-mannose treatment in PMM2-CDG:

Grünert, Sarah C. ; Marquardt, Thorsten ; Lausch, Ekkehart...
Orphanet Journal of Rare Diseases.  14 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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11

A common pathomechanism in GMAP-210– and LBR-related diseas..:

Wehrle, Anika ; Witkos, Tomasz M. ; Schneider, Judith C....
JCI Insight.  3 (2018)  23 - p. , 2018
Link: https://doi.org/10.1172/..
 
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12

Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 ..:

Speckmann, Carsten ; Sahoo, Sushree Sangita ; Rizzi, Marta...
Frontiers in Immunology.  8 (2017)  - p. , 2017
Link: https://doi.org/10.3389/..
 
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13

Genetic analysis of adults heterozygous for ALPL mutations:

Taillandier, Agnès ; Domingues, Christelle ; Dufour, Annika...
Journal of Bone and Mineral Metabolism.  36 (2017)  6 - p. 723-733 , 2017
Link: https://doi.org/10.1007/..
 
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14

CMG2/ANTXR2 regulates extracellular collagen VI which accum..:

Bürgi, Jérôme ; Kunz, Béatrice ; Abrami, Laurence...
Nature Communications.  8 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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15

Expression of RMRP RNA is regulated in chondrocyte hypertro..:

Steinbusch, Mandy M. F. ; Caron, Marjolein M. J. ; Surtel, Don A. M....
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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