Robert Hufnagel to Child, Preschool
This is a "connection" page, showing publications Robert Hufnagel has written about Child, Preschool.
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Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy. Invest Ophthalmol Vis Sci. 2021 05 03; 62(6):22.
Score: 0.140
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Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Hum Mutat. 2020 09; 41(9):1528-1539.
Score: 0.132
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Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome. Br J Ophthalmol. 2023 10; 107(10):1554-1559.
Score: 0.038
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet. 2021 10 07; 108(10):2006-2016.
Score: 0.036
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Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations. Am J Med Genet C Semin Med Genet. 2020 09; 184(3):644-655.
Score: 0.033
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Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. Am J Med Genet A. 2020 10; 182(10):2214-2221.
Score: 0.033
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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Sci Adv. 2019 09; 5(9):eaax2166.
Score: 0.031
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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. PLoS Genet. 2019 05; 15(5):e1008130.
Score: 0.030
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DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. Ophthalmology. 2019 02; 126(2):296-304.
Score: 0.029
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Benign Yellow Dot Maculopathy: A New Macular Phenotype. Ophthalmology. 2017 07; 124(7):1004-1013.
Score: 0.026
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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 01; 99(6):1388-1394.
Score: 0.026
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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 06 02; 98(6):1256-1265.
Score: 0.025
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A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. Clin Genet. 2016 07; 90(1):90-5.
Score: 0.024
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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 2015 Dec 03; 97(6):922-32.
Score: 0.024
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015 Dec; 14(12):1182-95.
Score: 0.024
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The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1. J Pediatr. 2015 Oct; 167(4):851-856.e1.
Score: 0.023
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Small bowel malrotation in distal 15q duplication: evidence for a rare association. Clin Dysmorphol. 2015 Apr; 24(2):65-7.
Score: 0.023
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Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Hum Gene Ther. 2013 Dec; 24(12):993-1006.
Score: 0.021