Back to Search Start Over

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Authors :
Perrine Pennamen
Caroline Rooryck
Yves Sznajer
Anne-Karin Kahlert
Isolina Riaño-Galán
Denny Schanze
David J. Amor
Eva Bermejo-Sánchez
Maie Walsh
Ariana Kariminejad
Siavash Ghaderi-Sohi
Mohamad Hasan Kariminejad
Ian P Hayes
Sönke Weinert
Patrick J. Morrison
Patrick Shannon
Martin Zenker
Gemma Poke
Annick Toutain
Suonavy Khung‐Savatovsky
Heinrich Sticht
David Chitayat
Fatima Abdelfattah
Evren Gumus
Marie-Laure Vuillaume
Katherine D. Mathews
Sabine Weidensee
Luisa Weiß
Benjamin W. Darbro
German Federal Ministry of Education and Research
Instituto de Salud Carlos III
Fundación 1000 sobre Defectos Congénitos
Source :
Scopus, RUO: Repositorio Institucional de la Universidad de Oviedo, Universidad de Oviedo (UNIOVI), Repisalud, Instituto de Salud Carlos III (ISCIII), RUO. Repositorio Institucional de la Universidad de Oviedo, instname, Abdelfattah, F, Kariminejad, A, Kahlert, AK, Morrison, P J, Gumus, E, Mathews, K D, Darbro, B W, Amor, D J, Walsh, M, Sznajer, Y, Weiß, L, Weidensee, S, Chitayat, D, Shannon, P, Bermejo-Sánchez, E, Riaño-Galán, I, Hayes, I, Poke, G, Rooryck, C, Pennamen, P, Khung-Savatovsky, S, Toutain, A, Vuillaume, ML, Ghaderi-Sohi, S, Kariminejad, M H, Weinert, S, Sticht, H, Zenker, M & Schanze, D 2020, ' Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders ', Human Mutation, vol. 41, no. 9, pp. 1615-1628 . https://doi.org/10.1002/humu.24067
Publication Year :
2020

Abstract

Financial assistance was received in support of the study by grants from the German Federal Ministry of Education and Research (BMBF) (GeNeRARe, FKZ: 01GM1519D) to M. Z. and from the Institute of Health Carlos III: Convenio ISCIII‐ASEREMAC, and Fundación 1000 sobre Defectos Congénitos, of Spain to E. B.‐S. and I. R. G.<br />Abdelfattah, F., Kariminejad, A., Kahlert, A.-K., Morrison, P.J., Gumus, E., Mathews, K.D., Darbro, B.W., Amor, D.J., Walsh, M., Sznajer, Y., Weiß, L., Weidensee, S., Chitayat, D., Shannon, P., Bermejo-Sánchez, E., Riaño-Galán, I., Hayes, I., Poke, G., Rooryck, C., Pennamen, P., Khung-Savatovsky, S., Toutain, A., Vuillaume, M.-L., Ghaderi-Sohi, S., Kariminejad, M.H., Weinert, S., Sticht, H., Zenker, M., Schanze, D.

Details

ISSN :
10981004
Volume :
41
Issue :
9
Database :
OpenAIRE
Journal :
Human mutationREFERENCES
Accession number :
edsair.doi.dedup.....3f22ec2fbb76abc39815ae8a6717c53d