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1 . Academic Journal
P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype
저자
by
Rust, Laura
;
Hazelton, Paige
;
Farris, Joseph
;
Wilke, Matheus
;
Klee, Eric
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P314: A novel STAG1 variant causing developmental delay, failure to thrive, hypotonia, and recurrent infections
저자
by
Safgren, Stephanie
;
Thurman, Sarah
;
Farris, Joseph
;
Zimmermann, Michael
;
Urrutia, Raul
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
Full Text (ScienceDirect)
Full Text (Clinical Key)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
P154: The second known case of CNP-related hypomyelinating leukodystrophy is diagnosed by RNA-seq and demonstrates an abnormal blood methylation profile*
저자
by
Farris, Joseph
;
Tan, Jia
;
Blake, Emily
;
William, Nancy
;
Gavrilova, Ralitza
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome.
저자
by
Farris, Joseph
;
Khanna, Cheryl
;
Smadbeck, James B.
;
Johnson, Sarah H.
;
Bothun, Erick
, et al.
소스
American Journal of Medical Genetics. Part A; May2024, Vol. 194 Issue 5, p1-6, 6p
Web of Science
Scopus
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7 . Academic Journal
P651: Early results from a multiomics cohort: Unique RIPK1fusions identified in two individuals with irritable bowel disease
저자
by
Farris, Joseph
;
Oliver, Gavin
;
Jenkinson, Garrett
;
Osbourne, Andrew
;
Kroc, Sarah
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
저자
by
Arribas-Carreira, Laura
;
Dallabona, Cristina
;
Swanson, Michael A
;
Farris, Joseph
;
Østergaard, Elsebet
, et al.
소스
Human Molecular Genetics; Mar2023, Vol. 32 Issue 6, p917-933, 17p
Full Text (OUP)
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7 . Academic Journal
Competing Interests of a Government Appointed Public-Private Partnership Board of a Nonprofit Corporation
저자
by
Farris, Joseph
.
소스
43 Del. J. Corp. L. 551 (2018-2019) / Delaware Journal of Corporate Law, Vol. 43, Issue 3 (2019), pp. 551-574
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3 . Academic Journal
CARDIOMYOPATHY-RELATED GENETIC VARIANTS AND THEIR PHENOTYPES: A GENOTYPE-FIRST APPROACH.
저자
by
Figueiral, Marta
;
Paldino, Alessia
;
Wilke, Matheus Vernet Machado Bressan
;
Farris, Joseph
;
verheijen, jan
, et al.
소스
Journal of the American College of Cardiology (JACC)
. 2024 Supplement, Vol. 83 Issue 13, p715-715. 1p.
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7 . Academic Journal
Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.
저자
by
Farris, Joseph
;
Alam, Md Suhail
;
Rajashekara, Arpitha Mysore
;
Haldar, Kasturi
.
소스
PLoS Genetics
. 2/1/2021, Vol. 17 Issue 2, p1-24. 24p.
Scopus
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6 . Academic Journal
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
저자
by
Farris, Joseph
;
Calhoun, Barbara
;
Alam, Suhail
;
Lee, Shaun
;
Haldar, Kasturi
.
소스
PLoS Computational Biology
. 5/18/2020, Vol. 16 Issue 5, p1-32. 32p. 12 Charts, 11 Graphs.
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