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1 . Academic Journal
O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I
저자
by
Jenny Goldstein
;
Amber Waddell
;
Carlos Aschoff
;
Xiangwen Chen-Deutsch
;
Matthew Ellinwood
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100877- (2024)
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7 . Academic Journal
P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
저자
by
Dona Kanavy
;
Jenny Goldstein
;
Filippo Pinto e Vairo
;
Deeksha Bali
;
Xiangwen Chen-Deutsch
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101599- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
P723: Identification of remarkable Y chromosome structural abnormalities and their link with various clinical presentations
저자
by
Eric Miller
;
Catherine Rehder
;
Stefan Rentas
;
Sarah Rapisardo
;
Kristen Deak
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101627- (2024)
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7 . Academic Journal
P748: Duplication of 12q24.11-q24.31 in a patient with Noonan-like features
저자
by
Ludmila Francescatto
;
Benjamin Cocanougher
;
Kristen Deak
;
Catherine Rehder
;
Sarah Rapisardo
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101652- (2024)
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7 . Academic Journal
P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina: Results from Early Check
저자
by
Katerina Kucera
;
Mary Beth Boyea
;
Brooke Migliore
;
Veronica Robles
;
Heidi Cope
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100544- (2023)
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7 . Academic Journal
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
저자
by
Heidi Cope
;
Hayk Barseghyan
;
Surajit Bhattacharya
;
Yulong Fu
;
Nicole Hoppman
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
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7 . Academic Journal
Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
저자
by
Deeksha S. Bali
;
Jennifer L. Goldstein
;
Catherine Rehder
;
Zoheb B. Kazi
;
Kathryn L. Berrier
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 76-79 (2015)
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7 .
Chronic Lymphocytic Leukemia With Two B-Cell Populations of Discordant Light Chain Restrictions in Individual Patients: Parallel Development of Biclonal B-Cell Neoplasms or Clonal Evolution With Isotype Switch?
저자
by
Yue Zhao
;
Imran Siddiqi
;
Tyler J Wildes
;
Jenna McCracken
;
Kristen Deak
, et al.
소스
American Journal of Clinical Pathology
. 159:337-351
Full Text (OUP)
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7 .
ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia
저자
by
Wen Shuai
;
Zhuang Zuo
;
Nianyi Li
;
Sofia Garces
;
Fatima Zahra Jelloul
, et al.
소스
Cancer
. 129:878-889
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7 .
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma With Secondary Acquisition of t(11;14)(q13;q32)/CCND1-IGH: A Rare Variant Of Richter Transformation to Mantle Cell Lymphoma
저자
by
Yue Zhao
;
Jenna McCracken
;
Catherine Rehder
;
Endi Wang
.
소스
Clinical Lymphoma Myeloma and Leukemia
. 22:e310-e313
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