Andrea Gangfuss - Dissemin

Language
Login

All papers authored by Andrea Gangfuss

This paper is made freely available by the publisher.

2021 Andrea Gangfuß

ORCID

, Artur Czech, Andreas Hentschel, Ute Münchberg, Rita Horvath

ORCID

, Ana Töpf, Emily O'Heir

ORCID

, Hanns Lochmüller, Florian Stehling, Cordula Kiewert, Albert Sickmann, Alma Kuechler, Frank J. Kaiser, Heike Kölbel, Jon Christiansen and 2 other authors

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Download from onlinelibrary.wiley.com

This paper was not found in any repository, but could be made available legally by the author.

Andrea Gangfuß

ORCID

, Hanns Lochmüller, Ana Töpf, Emily O'Heir, Rita Horvath

ORCID

, Heike Kölbel, Bernd Schweiger, Ulrike Schara‐Schmidt, Andreas Roos

A de novoCSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents

Upload

This paper is made freely available by the publisher.

Payam Mohassel

ORCID

, Sandra Donkervoort, Museer A. Lone

ORCID

, Matthew Nalls, Kenneth Gable

ORCID

, Sita D. Gupta

ORCID

, A. Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira, Fernando Kok, Alessandro Introna

ORCID

, Giancarlo Logroscino

ORCID

, Christopher Grunseich, Alec R. Nickolls and 31 other authors

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Download from www.nature.com

This paper is made freely available by the publisher.

Andrea Gangfuß

ORCID

, Gökhan Yigit, Janine Altmüller

ORCID

, Peter Nürnberg, Johanna Christina Czeschik, Bernd Wollnik, Nina Bögershausen, Peter Burfeind, Dagmar Wieczorek, Frank Kaiser, Andreas Roos, Heike Kölbel, Ulrike Schara‐Schmidt, Alma Kuechler

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study

Download from onlinelibrary.wiley.com

Missing publications? Search for publications with a matching author name.