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1 . Academic Journal
A novel telomere biology disease‐associated gastritis identified through a whole exome sequencing‐driven approach.
저자
by
Setia, Namrata
;
del Gaudio, Daniela
;
Kandikatla, Priscilla
;
Arndt, Kelly
;
Tjota, Melissa
, et al.
소스
Journal of Pathology: Clinical Research; Jan2024, Vol. 10 Issue 1, p1-6, 6p
Open Access (Wiley)
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7 . Academic Journal
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
저자
by
DeRoin, Lia
;
Cavalcante de Andrade Silva, Marcela
;
Petras, Kristin
;
Arndt, Kelly
;
Phillips, Nathaniel
, et al.
소스
Human Mutation; Jul2022, Vol. 43 Issue 7, p950-962, 13p
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7 . Academic Journal
Assessing the Feasibility and Limitations of Cultured Skin Fibroblasts for Germline Genetic Testing in Hematologic Disorders
저자
by
DeRoin, Lia
;
Cavalcante De Andrade Silva, Marcela
;
Petras, Kristin
;
Arndt, Kelly
;
Phillips, Nathaniel
, et al.
소스
In
Blood
5 November 2020 136 Supplement 1:35-36
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7 . Academic Journal
The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing
저자
by
Tan, Christopher A.
;
Topper, Scott
;
Ward Melver, Catherine
;
Stein, Jennifer
;
Reeder, Amanda
, et al.
소스
In
Brain and Development
April 2014 36(4):351-355
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7 . Academic Journal
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants.
저자
by
Gileta, Alexander F.
;
Helgeson, Maria L.
;
Leonard, Jacqueline M. M.
;
Pyle, Louise C.
;
Subramanian, Hari P.
, et al.
소스
American Journal of Medical Genetics. Part A; Mar2021, Vol. 185 Issue 3, p889-893, 5p
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7 . Academic Journal
Identification of Genetic Hereditary Predisposition to Hematologic Malignancies By Clinical Next-Generation Sequencing
저자
by
Knight Johnson, Amy E
;
Guidugli, Lucia
;
Arndt, Kelly
;
Alkorta-Aranburu, Gorka
;
Nelakuditi, Viswateja
, et al.
소스
In
Blood
3 December 2015 126(23):3854-3854
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7 . Periodical
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
저자
by
Sun, Miao
;
Johnson, Amy Knight
;
Nelakuditi, Viswateja
;
Guidugli, Lucia
;
Fischer, David
, et al.
소스
Genetics in Medicine; January 2019, Vol. 21 Issue: 1 p195-206, 12p
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7 . Academic Journal
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA
저자
by
Sanyoura, May
;
Jacobsen, Laura
;
Carmody, David
;
del Gaudio, Daniela
;
Alkorta-Aranburu, Gorka
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism
. Jan 01, 2018 103(1):35-45
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7 . Academic Journal
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants
저자
by
Gileta, Alexander F.
;
Helgeson, Maria L.
;
Leonard, Jacqueline M. M.
;
Pyle, Louise C.
;
Subramanian, Hari P.
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
; DEC 23 2020, 5p.
Web of Science
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7 . Academic Journal
Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay
저자
by
Li, Mindy H
;
Arndt, Kelly
;
Das, Soma
;
Weiss, Elliott M
;
Wu, Yaning
, et al.
소스
American Journal Of Medical Genetics - A
. Jun 01, 2015 167(6):1414-1417
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