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1 . Academic Journal
Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa
저자
by
Almeida Jr., Hiram Larangeira de
;
Monteiro, Luciane
;
Silva, Ricardo Marques e
;
Rocha, Nara Moreira
;
Scheffer, Hans
.
소스
Anais Brasileiros de Dermatologia
. December 2013 88(6)
Open Access (SciELO)
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7 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa
저자
by
Bremer, Jeroen
;
van der Heijden, Elisabeth H.
;
Eichhorn, Daryll S.
;
Meijer, Rowdy
;
Lemmink, Henny H.
, et al.
소스
In
Molecular Therapy - Nucleic Acids
6 December 2019 18:465-475
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7 . Academic Journal
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
저자
by
Olde Keizer, Richelle A. C. M.
;
Marouane, Abderrahim
;
Kerstjens-Frederikse, Wilhelmina S.
;
Deden, A. Chantal
;
Lichtenbelt, Klaske D.
, et al.
소스
European Journal of Pediatrics
(EUR J PEDIATR), Jun2023; 182(6): 2683-2692. (10p)
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7 . Academic Journal
Design and Validation of a Conformation Sensitive Capillary Electrophoresis-Based Mutation Scanning System and Automated Data Analysis of the More than 15 kbp-Spanning Coding Sequence of the SACS Gene
저자
by
Vermeer, Sascha
;
Meijer, Rowdy P.P.
;
Hofste, Tom G.J.
;
Bodmer, Daniëlle
;
Bosgoed, Ermanno A.J.
, et al.
소스
In
The Journal of Molecular Diagnostics
2009 11(6):514-523
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7 . Academic Journal
Exempting Homologous Pseudogene Sequences from Polymerase Chain Reaction Amplification Allows Genomic Keratin 14 Hotspot Mutation Analysis
저자
by
Hut, Petra H.L.
;
Vlies, Pieter v.d.
;
Verlind, Edwin
;
Buys, Charles H.C.M.
;
Scheffer, Hans
, et al.
소스
In
Journal of Investigative Dermatology
April 2000 114(4):616-619
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7 . Periodical
Stepwise ABC system for classification of any type of genetic variant
저자
by
Houge, Gunnar
;
Laner, Andreas
;
Cirak, Sebahattin
;
de Leeuw, Nicole
;
Scheffer, Hans
, et al.
소스
European Journal of Human Genetics: EJHG; February 2022, Vol. 30 Issue: 2 p150-159, 10p
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7 . Periodical
Recommendations for whole genome sequencing in diagnostics for rare diseases
저자
by
Souche, Erika
;
Beltran, Sergi
;
Brosens, Erwin
;
Belmont, John W.
;
Fossum, Magdalena
, et al.
소스
European Journal of Human Genetics: EJHG; 20220101, Issue: Preprints p1-5, 5p
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7 .
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
저자
by
Yaldiz, Burcu
;
Kucuk, Erdi
;
Hampstead, Juliet
;
Hofste, Tom
;
Pfundt, Rolph
, et al.
소스
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7 . Academic Journal
Genotype-Guided Thiopurine Dosing Does not Lead to Additional Costs in Patients With Inflammatory Bowel Disease.
저자
by
Sluiter, Reinier L
;
Marrewijk, Corine Van
;
Jong, Dirk De
;
Scheffer, Hans
;
Guchelaar, Henk-Jan
, et al.
소스
Journal of Crohn's & Colitis; Jul2019, Vol. 13 Issue 7, p838-845, 8p
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