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1 . Academic Journal
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
저자
by
Pena, Loren
;
Shashi, Vandana
;
Schoch, Kelly
;
Sullivan, Jennifer A.
;
Acosta, Maria T.
, et al.
소스
In
Biological Psychiatry
15 January 2020 87(2):100-112
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7 . Academic Journal
Impact of integrated translational research on clinical exome sequencing
저자
by
Klee, Eric W.
;
Cousin, Margot A.
;
Pinto e Vairo, Filippo
;
Morales-Rosado, Joel A.
;
Macke, Erica L.
, et al.
소스
In
Genetics in Medicine
February 2023 25(2)
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7 . Academic Journal
P341: Identification of novel variants and phenotypic expansion in OGT-CDG
저자
by
Verheijen, Jan
;
Vanhye, Lotte
;
Shaikh, Ayesha Niaz
;
Radenkovic, Silvia
;
Ranatunga, Wasantha
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
O05: Fractionated plasma N-glycan analysis identifies sensitive diagnostic biomarkers for congenital disorders of glycosylation (CDG)
저자
by
Paul Daniel, Earnest James
;
Edmondson, Andrew
;
Morava-Kozicz, Eva
;
Freeze, Hudson H.
;
He, Miao
.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).
저자
by
Balakrishnan, Bijina
;
Altassan, Ruqaiah
;
Budhraja, Rohit
;
Liou, Willisa
;
Lupo, Arielle
, et al.
소스
Translational Research: The Journal of Laboratory & Clinical Medicine; Jul2023, Vol. 257, p1-14, 14p
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7 . Academic Journal
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
저자
by
Acosta, Maria T.
;
Adams, David R.
;
Agrawal, Pankaj
;
Alejandro, Mercedes E.
;
Allard, Patrick
, et al.
소스
In
The American Journal of Human Genetics
5 September 2019 105(3):672-674
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7 . Academic Journal
Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report.
저자
by
Wilke, Matheus V. M. B.
;
Morava-Kozicz, Eva
;
Koster, Matthew J.
;
Schmitz, Christopher T.
;
Foster, Shannon Kaye
, et al.
소스
BMC Rheumatology; 8/30/2022, Vol. 6 Issue 1, p1-6, 6p
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7 . Academic Journal
A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants.
저자
by
Geiculescu, Irina
;
Dranove, Jason
;
Cosper, Graham
;
Edmondson, Andrew C.
;
Morava‐Kozicz, Eva
, et al.
소스
American Journal of Medical Genetics. Part A; Aug2022, Vol. 188 Issue 8, p2438-2442, 5p
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7 .
One is the loneliest number: genotypic matchmaking using the electronic health record
저자
by
Brokamp, Elly
;
Koziura, Mary E.
;
Phillips, John A., III
;
Tang, Leigh Anne
;
Cogan, Joy D.
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1830-1832
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7 .
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy
저자
by
Acosta, Maria T.
;
Adams, David R.
;
Agrawal, Pankaj
;
Alejandro, Mercedes E.
;
Allard, Patrick
, et al.
소스
In
Clinical Imaging
November-December 2019 58:108-113
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