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1 . Academic Journal
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease
저자
by
Abderrahim Marouane
;
Kornelia Neveling
;
A. Chantal Deden
;
Simone van den Heuvel
;
Dimitra Zafeiropoulou
, et al.
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Frontiers in Genetics, Vol 14 (2024)
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7 . Academic Journal
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
저자
by
Gaby Schobers
;
Jolanda H. Schieving
;
Helger G. Yntema
;
Maartje Pennings
;
Rolph Pfundt
, et al.
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Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9
저자
by
Erik de Vrieze
;
Jorge Cañas Martín
;
Jolien Peijnenborg
;
Aniek Martens
;
Jaap Oostrik
, et al.
소스
Molecular Therapy: Nucleic Acids, Vol 24, Iss , Pp 274-283 (2021)
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7 .
Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome
저자
by
Iris B.A.W. Te Paske
;
Arjen R. Mensenkamp
;
Kornelia Neveling
;
Nicoline Hoogerbrugge
;
Marjolijn J.L. Ligtenberg
, et al.
소스
Gastroenterology, 163, 1691-1694.e7
GASTROENTEROLOGY
Gastroenterology, 163, 6, pp. 1691-1694.e7
Gastroenterology, 163(6), 1691-1694.e7. Elsevier Saunders
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7 .
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
저자
by
Gaby Schobers
;
Jolanda H. Schieving
;
Helger G. Yntema
;
Maartje Pennings
;
Rolph Pfundt
, et al.
소스
Genome Medicine, 14, 1
Genome Medicine, 14(1):66. BioMed Central Ltd
Genome Medicine, 14
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7 .
AON-based degradation of c.151C > T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9
저자
by
Jorge Cañas Martín
;
Kornelia Neveling
;
Erik de Vrieze
;
Jolien Peijnenborg
;
Erwin van Wijk
, et al.
소스
Molecular Therapy. Nucleic Acids
Molecular Therapy-Nucleic Acids, 24, 274-283
Molecular Therapy-Nucleic Acids, 24, pp. 274-283
Molecular Therapy: Nucleic Acids, Vol 24, Iss, Pp 274-283 (2021)
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7 .
Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations
저자
by
Irma Derks-Prinsen
;
Ingrid Gomes
;
Ellen Kater-Baats
;
Simone van den Heuvel
;
Djie Tjwan Thung
, et al.
소스
Prenatal Diagnosis
. 36:216-223
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