Paper Details

Paper Title

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Paper Journal Title

Hum Mutat

Paper Citation Count

Paper Publication Year

2021

Bio Mention

Mesh Descriptor

Author Name	Affiliation
Juliane Winkelmann	Institute of Neurogenomics
Juliane Winkelmann	Ludwig-Maximilians-Universitat Munchen
Juliane Winkelmann	Technische Universitat Munchen
Juliane Winkelmann	Institute of Human Genetics, Technical University of Munich
Basil T Darras	Boston Children's Hospital, Harvard Medical School
Robert J Graham	Boston Children's Hospital, Harvard Medical School
Henry Houlden	Queen Square Institute of Neurology, University College London
Alistair T Pagnamenta	NIHR Biomedical Research Centre, University of Oxford
Jennifer E Posey	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
Gabriela M Repetto	Clinica Alemana Universidad del Desarrollo
Jens Meiler	Vanderbilt University
Jens Meiler	Institute for Drug Discovery, University of Leipzig Medical Center
Fowzan S Alkuraya	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Fowzan S Alkuraya	College of Medicine, Alfaisal University

Dataset	Description	Source Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link

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