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1 . Academic Journal
Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum
저자
by
Melissa M. Boerrigter
;
René H. M. te Morsche
;
Hanka Venselaar
;
Nikki Pastoors
;
Anja M. Geerts
, et al.
소스
Genes, Vol 14, Iss 8, p 1652 (2023)
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7 . Academic Journal
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
저자
by
Lot Snijders Blok
;
Jolijn Verseput
;
Dmitrijs Rots
;
Hanka Venselaar
;
A. Micheil Innes
, et al.
소스
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
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7 . Academic Journal
An Overview of the Putative Structural and Functional Properties of the GHBh1 Receptor through a Bioinformatics Approach
저자
by
Casper J. H. Wolf
;
Hanka Venselaar
;
Marcia Spoelder
;
Harmen Beurmanjer
;
Arnt F. A. Schellekens
, et al.
소스
Life, Vol 13, Iss 4, p 926 (2023)
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7 . Academic Journal
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
저자
by
Lot Snijders Blok
;
Justine Rousseau
;
Joanna Twist
;
Sophie Ehresmann
;
Motoki Takaku
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
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7 . Academic Journal
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
저자
by
Lot Snijders Blok
;
Justine Rousseau
;
Joanna Twist
;
Sophie Ehresmann
;
Motoki Takaku
, et al.
소스
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
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7 .
A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa
저자
by
Schellens, R.T.W.
;
Broekman, S.
;
Peters, Theo
;
Graave, Pam
;
Malinar, Lucija
, et al.
소스
Molecular Therapy-Nucleic Acids, 32, pp. 980-994
Molecular Therapy-Nucleic Acids, 32, 980-994
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7 . Academic Journal
Antisense oligonucleotides for dominantly inherited hearing impairment DFNA9: from cells models to humanized mice...59th Inner Ear Biology Workshop, September 15-17, 2024, Warsaw, Poland.
저자
by
Aben, F.
;
Verdoodt, D.
;
de Bruijn, S.
;
Oostrik, J.
;
Venselaar, H.
, et al.
소스
Journal of Hearing Science
(J HEAR SCI), Sep2024; 14(3): 100-101. (2p)
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7 . Academic Journal
Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences
저자
by
Waanders, E
;
Scheijen, B
;
Jongmans, M C J
;
Venselaar, H
;
van Reijmersdal, S V
, et al.
소스
Leukemia
. 31(4):821-828
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7 . Academic Journal
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
저자
by
Reurink, Janine
;
de Vrieze, Erik
;
Li, Catherina H. Z.
;
van Berkel, Emma
;
Broekman, Sanne
, et al.
소스
npj Genomic Medicine
. 7(1)
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7 . Academic Journal
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
저자
by
Polla, Daniel L.
;
Farazi Fard, Mohammad Ali
;
Tabatabaei, Zahra
;
Habibzadeh, Parham
;
Levchenko, Olga A.
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(7):1246-1254
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