Phoenix Children's Hospital

Hospital


Location: Phoenix, AZ

ISNI: 0000000103810779

ROR: https://ror.org/03ae6qy41

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype (2025) Erdogan EN, Cheng CV, Caraffi SG, Ivanovski I, Piatelli G, Errichiello E, Papavasiliou AS, et al. Journal article Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability (2025) Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, et al. Journal article Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders (2023) Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, et al. Journal article Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly (2022) Kloeckner C, Murray JPF, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, et al. Journal article Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study (2022) Spitzer H, Ripart M, Whitaker K, D'Arco F, Mankad K, Chen AA, Napolitano A, et al. Journal article Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss (2021) Richard EM, Bakhtiari S, Marsh AP, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, et al. Journal article Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia (2020) Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, et al. Journal article Magnetic resonance neurography of the lumbosacral plexus at 3 Tesla – CSF-suppressed imaging with submillimeter resolution by a three-dimensional turbo spin echo sequence (2020) Sollmann N, Cervantes B, Klupp E, Weidlich D, Makowksi MR, Kirschke JS, Hu HH, Karampinos DC Journal article De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation (2018) Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, et al. Journal article