Opening book details…
About this book
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder by Eva Morava & Ulrich A. Schatz & Pernille M. Torring & Mary-Alice Abbott & Matthias Baumann & Charlotte Brasch-Andersen & Nathalie Chevalier & Ulrike Dunkhase-Heinl & Martin Fleger & Tobias B. Haack & Stephen Nelson & Sven Potelle & Silvia Radenkovic &... is a book available to read on EtoBox.
- Author
- Eva Morava & Ulrich A. Schatz & Pernille M. Torring & Mary-Alice Abbott & Matthias Baumann & Charlotte Brasch-Andersen & Nathalie Chevalier & Ulrike Dunkhase-Heinl & Martin Fleger & Tobias B. Haack & Stephen Nelson & Sven Potelle & Silvia Radenkovic &...
- Publisher
- ElsevierCompany.
- Published
- 2021
- Language
- EN
More by Eva Morava & Ulrich A. Schatz & Pernille M. Torring & Mary-Alice Abbott & Matthias Baumann & Charlotte Brasch-Andersen & Nathalie Chevalier & Ulrike Dunkhase-Heinl & Martin Fleger & Tobias B. Haack & Stephen Nelson & Sven Potelle & Silvia Radenkovic &...
Similar books
- Bi-allelic Loss-of-function Variants in BCAS3 Cause a Syndromic Neurodevelopmental Disorder — Holger Hengel & Shabab B. Hannan & Sarah Dyack & Sara B. MacKay & Ulrich Schatz & Martin Fleger & Andreas Kurringer & Ghassan Balousha & Zaid Ghanim & Fowzan S. Alkuraya & Hamad Alzaidan & Hessa S. Alsaif & Tadahiro Mitani & Sevcan Bozdogan & Davut... (2021)
- Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype — Arjan F. Theil & Elena Botta & Anja Raams & Desiree E.C. Smith & Marisa I. Mendes & Giuseppina Caligiuri & Sarah Giachetti & Silvia Bione & Roberta Carriero & Giordano Liberi & Luca Zardoni & Sigrid M.A. Swagemakers & Gajja S. Salomons & Alain Sarasin... (2019)
- Bi-allelic TTI1 Variants Cause an Autosomal-recessive Neurodevelopmental Disorder with Microcephaly — Margaux Serey-Gaut & Marisol Cortes & Periklis Makrythanasis & Mohnish Suri & Alexander M.R. Taylor & Jennifer A. Sullivan & Ayat N. Asleh & Jaba Mitra & Mohamad A. Dar & Amy McNamara & Vandana Shashi & Sarah Dugan & Xiaofei Song & Jill A. Rosenfeld &...
- Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans — Francesco Vetrini & Lisa C.A. D’Alessandro & Zeynep C. Akdemir & Alicia Braxton & Mahshid S. Azamian & Mohammad K. Eldomery & Kathryn Miller & Chelsea Kois & Virginia Sack & Natasha Shur & Asha Rijhsinghani & Jignesh Chandarana & Yan Ding & Judy...
- Bi-allelic Variants in DOHH, Catalyzing the Last Step of Hypusine Biosynthesis, Are Associated with a Neurodevelopmental Disorder — Alban Ziegler & Katharina Steindl & Ashleigh S. Hanner & Rajesh Kumar Kar & Clément Prouteau & Anne Boland & Jean Francois Deleuze & Christine Coubes & Stéphane Bézieau & Sébastien Küry & Isabelle Maystadt & Morgane Le Mao & Guy Lenaers & Benjamin...
- Bi-allelic Variants in the ESAM Tight-junction Gene Cause a Neurodevelopmental Disorder Associated with Fetal Intracranial Hemorrhage — Mauro Lecca & Davut Pehlivan & Damià Heine Suñer & Karin Weiss & Thibault Coste & Markus Zweier & Yavuz Oktay & Nada Danial-Farran & Vittorio Rosti & Maria Paola Bonasoni & Alessandro Malara & Gianluca Contrò & Roberta Zuntini & Marzia Pollazzon &... (2023)