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1 . Academic Journal
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY
저자
by
Pavithram, Aishwarya
;
Zhang, Haichen
;
Maloney, Kristin A.
;
Ringdal, Monika
;
Kaci, Alba
, et al.
소스
In
The Journal of Molecular Diagnostics
June 2024 26(6):530-541
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7 . Academic Journal
FDA approval summary for lonafarnib (Zokinvy) for the treatment of Hutchinson-Gilford progeria syndrome and processing-deficient progeroid laminopathies
저자
by
Suzuki, Mari
;
Jeng, Linda J.B.
;
Chefo, Solomon
;
Wang, Yan
;
Price, Dionne
, et al.
소스
In
Genetics in Medicine
February 2023 25(2)
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7 . Academic Journal
Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention
저자
by
Cavallari, Larisa H.
;
Lee, Craig R.
;
Beitelshees, Amber L.
;
Cooper-DeHoff, Rhonda M.
;
Duarte, Julio D.
, et al.
소스
In
JACC: Cardiovascular Interventions
22 January 2018 11(2):181-191
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7 . Academic Journal
Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program.
저자
by
Zhang, Haichen
;
Kleinberger, Jeffrey W.
;
Maloney, Kristin A.
;
Guan, Yue
;
Mathias, Trevor J.
, et al.
소스
Diabetes Care
. Aug2022, Vol. 45 Issue 8, p1799-1806. 8p.
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7 . Academic Journal
Lipodermoid in a patient with Emanuel syndrome
저자
by
Glaser, Tanya S.
;
Rauen, Katherine A.
;
Jeng, Linda J.B.
;
de Alba Campomanes, Alejandra G.
.
소스
In
Journal of AAPOS
April 2013 17(2):211-213
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6 . Periodical
In VitroFunctional Analysis Can Aid Precision Diagnostics of Hepatocyte Nuclear Factor 1B Maturity-Onset Diabetes of the Young
저자
by
Pavithram, Aishwarya
;
Zhang, Haichen
;
Maloney, Kristin A.
;
Ringdal, Monika
;
Kaci, Alba
, et al.
소스
The Journal of Molecular Diagnostics; 20240101, Issue: Preprints
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7 . Academic Journal
Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies
저자
by
Pua, Heather H.
;
Krishnamurthi, Swetha
;
Farrell, Jessica
;
Margeta, Marta
;
Ursell, Philip C.
, et al.
소스
American Journal Of Medical Genetics - A
. Jan 01, 2014 164(1):237-242
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7 . Academic Journal
2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia.
저자
by
Bermudez-Wagner, Karla
;
Jeng, Linda J.B.
;
Slavotinek, Anne M.
;
Sanford, Erica F.
.
소스
Clinical Dysmorphology; Jan2013, Vol. 22 Issue 1, p22-24, 3p
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