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11 . Academic Journal
Trace Contamination Following Reuse of Anion-Exchange DNA Purification Resins
저자
by
Brent L. Fogel
;
Mark T. McNally
.
소스
BioTechniques, Vol 28, Iss 2, Pp 299-302 (2000)
Open Access (DOAJ)
Web of Science
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14 .
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
저자
by
Haloom Rafehi
;
Justin Read
;
David J. Szmulewicz
;
Kayli C. Davies
;
Penny Snell
, et al.
소스
Am J Hum Genet
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17 .
Toward a Biomarker Panel measured in CNS-originating Extracellular Vesicles for Differential Diagnosis of Parkinson’s Disease and Multiple System Atrophy (S37.005)
저자
by
Hash Brown Taha
;
Leony Fenwick
;
Simon Hornung
;
Suman Dutta
;
Kathryn Howe
, et al.
소스
Wednesday, April 26
.
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17 .
Core protocol development for phase 2/3 clinical trials in the leukodystrophy Vanishing White Matter
저자
by
Daphne H. Schoenmakers
;
Prisca S. Leferink
;
Adeline Vanderver
;
Joshua L. Bonkowsky
;
Ingeborg Krägeloh-Mann
, et al.
소스
Open Access (OpenAIRE)
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17 .
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
저자
by
Suma P. Shankar
;
Kristin Grimsrud
;
Louise Lanoue
;
Alena Egense
;
Brandon Willis
, et al.
소스
Genet Med
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17 .
Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson’s Disease Cohorts
저자
by
Darice Wong
;
Angus D. Macleod
;
Brent L. Fogel
;
Carl Counsell
;
Jeff M. Bronstein
, et al.
소스
Journal of Parkinson's Disease
Journal of Parkinson's disease, vol 11, iss 4
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17 .
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
저자
by
Thomas A. Ravenscroft
;
Jennifer B. Phillips
;
Elizabeth Fieg
;
Sameer S. Bajikar
;
Judy Peirce
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
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17 .
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
저자
by
Felix Marbach
;
Georgi Stoyanov
;
Florian Erger
;
Constantine A. Stratakis
;
Nikolaos Settas
, et al.
소스
Genetics in Medicine
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17 .
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
저자
by
Rebecca C. Spillmann
;
Queenie K.-G. Tan
;
Chloe Reuter
;
Kelly Schoch
;
Jennefer Kohler
, et al.
소스
Genetics in Medicine
. 25:100353
Full Text (ScienceDirect O/A)
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17 .
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
저자
by
Shilpa Nadimpalli Kobren
;
Dustin Baldridge
;
Matt Velinder
;
Joel B. Krier
;
Kimberly LeBlanc
, et al.
소스
Genetics in Medicine
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