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1 . Academic Journal
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects
저자
by
Amanda Nagy
;
Francine Molay
;
Sarah Hargadon
;
Claudia Brito Pires
;
Natalie Grant
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
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7 . Academic Journal
P237: Diagnosis of Cornelia de Lange syndrome through EPISign whole genome methylation assay: Findings from a twin case
저자
by
Tiffany Jong
;
Ellen Macnamara
;
Cynthia Tifft
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101133- (2024)
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5 . Academic Journal
P280: Expansion of TAOK1 related developmental delay phenotype
저자
by
Riley Johnson
;
Lynne Wolfe
;
Ellen Macnamara
;
David Adams
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101176- (2024)
Full Text (ScienceDirect)
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6 . Academic Journal
P315: Novel variants in the CACNA1B gene: A case presentation of neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
저자
by
Zoe Wolfenson
;
Precilla D'Souza
;
Marla Sabaii
;
Inna Hughes
;
David Adams
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101210- (2024)
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7 . Academic Journal
P331: Multiomic approach to diagnosis: A case study in the Undiagnosed Diseases Program
저자
by
Anna Crowell
;
Ellen Macnamara
;
Camilo Toro
;
F. Frost
;
Christopher Grunseich
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101225- (2024)
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7 . Academic Journal
Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy
저자
by
Jason R. McFadden
;
Christina Deanne P. Tolete
;
Yan Huang
;
Ellen Macnamara
;
David Sept
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100990- (2023)
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7 . Academic Journal
P253: Pancraniosynostosis and macrocephaly in a four-year-old male without molecular diagnosis: Treated but unsolved
저자
by
Yoliann Mojica Algarin
;
Ellen MacNamara
;
Precilla D'Souza
;
Cynthia Tifft
.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100281- (2023)
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6 . Academic Journal
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
저자
by
Bernardo Blanco-Sánchez
;
Aurélie Clément
;
Sarah J Stednitz
;
Jennifer Kyle
;
Judy L Peirce
, et al.
소스
PLoS Genetics, Vol 16, Iss 10, p e1009156 (2020)
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7 . Academic Journal
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network
저자
by
Heidi Cope
;
Rebecca Spillmann
;
Jill A. Rosenfeld
;
Elly Brokamp
;
Rebecca Signer
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
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7 . Academic Journal
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
저자
by
Bernardo Blanco-Sánchez
;
Aurélie Clément
;
Sara J Stednitz
;
Jennifer Kyle
;
Judy L Peirce
, et al.
소스
PLoS Genetics, Vol 16, Iss 6, p e1008841 (2020)
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