Children's Hospital of Philadelphia

Hospital


Location: Philadelphia, United States (USA) (US) US

ISNI: 0000000106808770

ROR: https://ror.org/01z7r7q48

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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Unpublished / Preprint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

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants (2018) Johnston JJ, Van Der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, et al. Journal article De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018) Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al. Journal article Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (2018) Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al. Journal article The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase? (2017) Azukaitis K, Simkova E, Majid MA, Galiano M, Benz K, Amann KU, Bockmeyer C, et al. Journal article STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability (2017) Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, et al. Journal article Multicenter Comparison of 3D Spinal Measurements Using Surface Topography with Those from Conventional Radiography (2016) Knott P, Sturm P, Lonner B, Cahill P, McCarthy R, Kelly M, Lenke L, et al. Journal article International Network of Chronic Kidney Disease cohort studies (iNET-CKD): a global network of chronic kidney disease cohorts (2016) Dienemann T, Fujii N, Orlandi P, Nessel L, Furth SL, Hoy WE, Matsuo S, et al. Journal article SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss (2016) Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, et al. Journal article
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