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1 . Academic Journal
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk: Laboratory Experience and Considerations
저자
by
Rosenblum, Lynne S.
;
Auger, Stephanie M.
;
Zhu, Hui
;
Zhou, Zhaoqing
;
Xin, Winnie
, et al.
소스
In
The Journal of Molecular Diagnostics
March 2024 26(3):202-212
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7 . Academic Journal
Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort
저자
by
Reiner, Jennifer
;
Rosenblum, Lynne S.
;
Xin, Winnie
;
Zhou, Zhaoqing
;
Zhu, Hui
, et al.
소스
In
Genetics in Medicine
February 2023 25(2)
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7 . Academic Journal
Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy
저자
by
Maron, Martin S.
;
Xin, Winnie
;
Sims, Katherine B.
;
Butler, Rita
;
Haas, Tammy S.
, et al.
소스
In
The American Journal of Medicine
February 2018 131(2):200-200
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7 . Periodical
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers
저자
by
Sleat, David E.
;
Tannous, Abla
;
Sohar, Istvan
;
Wiseman, Jennifer A.
;
Zheng, Haiyan
, et al.
소스
Journal of Proteome Research; 20240101, Issue: Preprints
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7 . Academic Journal
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
저자
by
Fietz, Michael
;
AlSayed, Moeenaldeen
;
Burke, Derek
;
Cohen-Pfeffer, Jessica
;
Cooper, Jonathan D.
, et al.
소스
Molecular Genetics & Metabolism
. Sep2016, Vol. 119 Issue 1/2, p160-167. 8p.
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7 . Academic Journal
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
저자
by
Kohan, Romina
;
Pesaola, Favio
;
Guelbert, Norberto
;
Pons, Patricia
;
Oller-Ramírez, Ana María
, et al.
소스
BBA: Molecular Basis of Disease
. Oct2015 Part B, Vol. 1852 Issue 10, p2301-2311. 11p.
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7 . Academic Journal
Novel recruitment strategy to enrich for LRRK2 mutation carriers.
저자
by
Foroud, Tatiana
;
Smith, Danielle
;
Jackson, Jacqueline
;
Verbrugge, Jennifer
;
Halter, Cheryl
, et al.
소스
Molecular Genetics & Genomic Medicine
. Sep2015, Vol. 3 Issue 5, p404-412. 9p.
Open Access (Wiley)
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7 . Periodical
Identification and characterization of a novel DGAT1missense mutation associated with congenital diarrhea[S]
저자
by
Gluchowski, Nina L.
;
Chitraju, Chandramohan
;
Picoraro, Joseph A.
;
Mejhert, Niklas
;
Pinto, Shirly
, et al.
소스
Journal of Lipid Research; June 2017, Vol. 58 Issue: 6 p1230-1237, 8p
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7 . Academic Journal
Mutation in 5′ upstream region of GCHI gene causes familial dopa-responsive dystonia
저자
by
Sharma, Nutan
;
Armata, Ioanna A.
;
Multhaupt-Buell, Trisha J.
;
Ozelius, Laurie J.
;
Xin, Winnie
, et al.
소스
Movement Disorders
. Sep 01, 2011 26(11):2140-2141
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7 . Academic Journal
Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4
저자
by
Staropoli, John F
;
Xin, Winnie
;
Sims, Katherine B
.
소스
Journal of Medical Genetics
. Nov 01, 2010 47(11):786-790
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