Sage Journals: Discover world-class research

Retricted access

Research article

First published 2015-12

Phelan McDermid Syndrome

Hala Harony-Nicolas, Silvia De Rubeis, Alexander Kolevzon [...]

Journal of Child Neurology

Retricted access

Research article

First published 2023-12

Gait Abnormalities in Children with Phelan-McDermid Syndrome

Yitzchak Frank, Tess Levy, Reymundo Lozano [...]

Journal of Child Neurology

Retricted access

Research article

First published 2021-2

Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome

Dararat Mingbunjerdsuk, Melissa Wong, Xiuhua Bozarth [...]

Journal of Child Neurology

Retricted access

Review article

First published 2017-4

A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs

Edwin R Van den Heuvel, Renée J Zwanenburg, Conny MA Van Ravenswaaij-Arts

Statistical Methods in Medical Research

Open access

Review article

First published 2024

A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop

Margaret C. Savage, Geraldine Bliss, Joseph D. Buxbaum [...]

Therapeutic Advances in Rare Disease

Retricted access

Research article

First published 2011-4

Genomic designation: How genetics can delineate new,phenotypically diffuse medical categories

Daniel Navon

Social Studies of Science

Retricted access

Review article

First published 2012-7

Mitochondrial Disease in 22q13 Duplication Syndrome

Richard E. Frye

Journal of Child Neurology

Open access

Research article

First published 2023-02

Elevation of SHANK3 Levels by Antisense Oligonucleotides Directed Against the 3′-UTR of the Human SHANK3 mRNA

Nadine Stirmlinger, Jan Philip Delling, Stefanie Pfänder [...]

Nucleic Acid Therapeutics

Search results