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1 . Academic Journal
Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma
저자
by
Verkerk, Annemieke J.M.H.
;
Andrei, Daniela
;
Vermeer, Mathilde C.S.C.
;
Kramer, Duco
;
Schouten, Marloes
, et al.
소스
In
Journal of Investigative Dermatology
February 2024 144(2):284-295
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7 . Academic Journal
Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III
저자
by
Dekker, Silvy
;
Thijssen, Carlijn G.E.
;
Linde, Denise vd
;
vd Laar, Ingrid M.B.H.
;
Saris, Jasper J.
, et al.
소스
In
European Journal of Medical Genetics
February 2022 65(2)
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7 . Academic Journal
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis
저자
by
Vandervore, Laura V.
;
Schot, Rachel
;
Hoogeboom, A. Jeannette M.
;
Lincke, Carsten
;
de Coo, Irenaeus F.
, et al.
소스
In
European Journal of Medical Genetics
December 2018 61(12):783-789
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7 . Academic Journal
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.
저자
by
Douben, Hannie
;
Hoogeveen-Westerveld, Marianne
;
Nellist, Mark
;
Louwen, Jesse
;
Haan, Marian Kroos-de
, et al.
소스
Human Mutation; 2/15/2023, p1-14, 14p
Web of Science
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7 . Academic Journal
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
저자
by
Dekker, Jordy
;
Schot, Rachel
;
Bongaerts, Michiel
;
de Valk, Walter G.
;
van Veghel-Plandsoen, Monique M.
, et al.
소스
American Journal of Human Genetics
. Feb2023, Vol. 110 Issue 2, p251-272. 22p.
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7 . Academic Journal
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
저자
by
Douben, Hannie C. W.
;
Nellist, Mark
;
van Unen, Leontine
;
Elfferich, Peter
;
Kasteleijn, Esmee
, et al.
소스
Human Mutation; Dec2022, Vol. 43 Issue 12, p2130-2140, 11p
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7 . Academic Journal
Prorenin Uptake in the Heart: a Prerequisite for Local Angiotensin Generation?
저자
by
Jan Danser, A.H.
;
Saris, Jasper J.
.
소스
In
Journal of Molecular and Cellular Cardiology
November 2002 34(11):1463-1472
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4 . Academic Journal
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
저자
by
Rumping, Lynne
;
Wessels, Marja W.
;
Postma, Alex V.
;
van Schuppen, Joost
;
van Slegtenhorst, Marjon A.
, et al.
소스
American Journal of Medical Genetics. Part A; Dec2021, Vol. 185 Issue 12, p3814-3820, 7p
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7 . Academic Journal
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
저자
by
Fokkema, Ivo F. A. C.
;
Velde, Kasper J.
;
Slofstra, Mariska K.
;
Ruivenkamp, Claudia A. L.
;
Vogel, Maartje J.
, et al.
소스
Human Mutation; Dec2019, Vol. 40 Issue 12, p2230-2238, 9p
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7 . Academic Journal
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
저자
by
Van Opstal, Diane
;
Diderich, Karin E.M.
;
Joosten, Marieke
;
Govaerts, Lutgarde C.P.
;
Polak, Joke
, et al.
소스
Prenatal Diagnosis; Nov2018, Vol. 38 Issue 12, p911-919, 9p
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