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Advanced Search Results For "Thurm, Scott"

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 "Thurm, Scott"
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State-Dependent Differences in Functional Connectivity in Young Children With Autism Spectrum Disorder

Publication Type: Academic Journal

Source(s): EBioMedicine, Vol 2, Iss 12, Pp 1905-1915 (2015)

Abstract: Background: While there is increasing evidence of altered brain connectivity in autism, the degree and direction of these alterations in connectivity and their uniqueness to autism has not been established. The aim of the present study was to compare c...

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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.

Publication Type: Academic Journal

Source(s): Human Genetics; Dec2021, Vol. 140 Issue 12, p1709-1731, 23p

Abstract: Copyright of Human Genetics is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or emai...

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Variants in PRKAR1Bcause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Publication Type: Periodical

Source(s): Genetics in Medicine; August 2021, Vol. 23 Issue: 8 p1465-1473, 9p

Abstract: We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1Bgene, which encodes the R1β subunit of the cyclic AMP-de...

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Publication Type: Periodical

Source(s): Genetics in Medicine; June 2021, Vol. 23 Issue: 6 p1075-1085, 11p

Abstract: Genomic sequencing has become an increasingly powerful and relevant tool to be leveraged for the discovery of genetic aberrations underlying rare, Mendelian conditions. Although the computational tools incorporated into diagnostic workflows for this ta...

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The impact of psychiatric disorders on outcomes following heart transplantation in children.

Publication Type: Academic Journal

Source(s): Pediatric Transplantation; Nov2020, Vol. 24 Issue 7, p1-11, 11p

Abstract: Copyright of Pediatric Transplantation is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, downlo...

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Functional brain connectivity in electrical status epilepticus in sleep

Publication Type: Periodical

Source(s): Epileptic Disorders; February 2019, Vol. 21 Issue: 1 p55-64, 10p

Abstract: Aims. Electrical status epilepticus in sleep (ESES) is an age‐related, self‐limited epileptic encephalopathy. The syndrome is characterized by cognitive and behavioral abnormalities and a specific EEG pattern of continuous spikes and waves during slow‐...

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Accuracy of Administrative Data for Antimicrobial Administration in Hospitalized Children.

Publication Type: Academic Journal

Source(s): Journal of the Pediatric Infectious Diseases Society; Sep2018, Vol. 7 Issue 3, p261-263, 3p

Abstract: Copyright of Journal of the Pediatric Infectious Diseases Society is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written per...

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Characteristics of Rural Children Admitted to Pediatric Hospitals.

Publication Type: Academic Journal

Source(s): Pediatrics; May2016, Vol. 137 Issue 5, p1-9, 9p

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MED23-associated intellectual disability in a non-consanguineous family.

Publication Type: Academic Journal

Source(s): American Journal of Medical Genetics. Part A; Jun2015, Vol. 167A Issue 6, p1374-1380, 7p

Abstract: Copyright of American Journal of Medical Genetics. Part A is the property of John Wiley & Sons, Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. Howev...

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