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1 . Academic Journal
P897: DEIJ advancement in the genomics laboratory through GC-driven advocacy: A process improvement review of sex/gender verification SOPs
저자
by
Essendrup, Anna
;
Brunker, Sarah
;
Ellingson, Marissa
;
Bortnova, Jessica
;
Salsbery, Kyle
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
Full Text (Clinical Key)
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7 . Academic Journal
P742: Assessing stability of frozen samples for Bionano optical single DNA mapping for diagnosis of facioscapulohumeral muscular dystrophy type 1
저자
by
Cook, Sara
;
Lauer, Emily
;
Lundquist, Patrick
;
Hasadsri, Linda
;
Milone, Margherita
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Book
Chapter 16 - Noninvasive prenatal screening for fetal aneuploidies
저자
by
Hasadsri, Linda
;
Allyse, Megan A.
.
소스
In
Diagnostic Molecular Pathology
Edition: Second Edition. 2024:217-229
Full Text (ScienceDirect)
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4 . Academic Journal
The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss.
저자
by
Koleilat, Alaa
;
Poling, Gayla L.
;
Schimmenti, Lisa A.
;
Hasadsri, Linda
.
소스
Ear & Hearing (01960202); Mar/Apr2024, Vol. 45 Issue 2, p517-521, 5p
Web of Science
Scopus
JCR 저널정보
Find it @ DONGA
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6 . Academic Journal
A supervised learning method for classifying methylation disorders.
저자
by
Walsh, Jesse R.
;
Sun, Guangchao
;
Balan, Jagadheshwar
;
Hardcastle, Jayson
;
Vollenweider, Jason
, et al.
소스
BMC Bioinformatics
. 2/12/2024, Vol. 25 Issue 1, p1-15. 15p.
Open Access (BioMed Central)
Web of Science
Scopus
JCR 저널정보
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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)
Full Text (ScienceDirect)
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7 . Academic Journal
P688: A pilot mentorship program for the career advancement of underrepresented individuals in laboratory genomics at Mayo Clinic
저자
by
Koleilat, Alaa
;
Hasadsri, Linda
;
Rumilla, Kandelaria
;
Niu, Zhiyv
.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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6 . Academic Journal
P570: Getting it right on the first test: Machine learning plus genome-wide methylation profiling resolves equivocal cases of Beckwith-Wiedemann syndrome
저자
by
Theis, Jeanne
;
Hardcastle, Jayson
;
Vollenweider, Jason
;
Jerde, Calvin
;
Rumilla, Kandelaria
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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Full Text (ScienceDirect O/A)
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7 . Academic Journal
P491: Diagnostic yield of a custom targeted genotyping panel for carrier screening of >2,000 samples: The case against cystic fibrosis-only testing
저자
by
Kanwar, Nisha
;
Winters, Jennifer
;
McDonald, Amber
;
Harrington, Sean
;
Kuennen, Rhonda
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
Full Text (Clinical Key)
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Full Text (ScienceDirect O/A)
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7 . Academic Journal
P496: The importance of mitochondrial disease testing in young adults with new onset sensorineural hearing loss
저자
by
Koleilat, Alaa
;
Poling, Gayla
;
Schimmenti, Lisa
;
Hasadsri, Linda
.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
Full Text (Clinical Key)
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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