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1 . Academic Journal
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
저자
by
D’Incal, Claudio Peter
;
Annear, Dale John
;
Elinck, Ellen
;
van der Smagt, Jasper J.
;
Alders, Mariëlle
, et al.
소스
European Journal of Human Genetics
. 32(6):630-638
Web of Science
Scopus
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7 . Academic Journal
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
저자
by
Dingemans, Alexander J. M.
;
Hinne, Max
;
Truijen, Kim M. G.
;
Goltstein, Lia
;
van Reeuwijk, Jeroen
, et al.
소스
Nature Genetics
. 55(9):1598-1607
Web of Science
Scopus
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7 . Academic Journal
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
저자
by
Alexander J. M. Dingemans
;
Kim M. G. Truijen
;
Sam van de Ven
;
Raphael Bernier
;
Ernie M. H. F. Bongers
, et al.
소스
Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
Open Access (DOAJ)
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7 . Academic Journal
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
저자
by
Dingemans, Alexander J. M.
;
Truijen, Kim M. G.
;
van de Ven, Sam
;
Bernier, Raphael
;
Bongers, Ernie M. H. F.
, et al.
소스
Translational Psychiatry
. 12(1)
Web of Science
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7 . Academic Journal
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
저자
by
Dingemans, Alexander J. M.
;
Truijen, Kim M. G.
;
Kim, Jung-Hyun
;
Alaçam, Zahide
;
Faivre, Laurence
, et al.
소스
European Journal of Human Genetics
. 30(3):271-281
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7 . Academic Journal
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome
저자
by
Dingemans, Alexander J. M.
;
Stremmelaar, Diante E.
;
van der Donk, Roos
;
Vissers, Lisenka E. L. M.
;
Koolen, David A.
, et al.
소스
European Journal of Human Genetics
. 29(9):1418-1423
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7 . Academic Journal
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
저자
by
Balasubramanian, Meena
;
Dingemans, Alexander J. M.
;
Albaba, Shadi
;
Richardson, Ruth
;
Yates, Thabo M.
, et al.
소스
European Journal of Human Genetics
. 29(4):625-636
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7 . Academic Journal
The ICEpop Capability Measure for Adults Instrument for Capabilities: Development of a Tariff for the Dutch General Population
저자
by
Rohrbach, Pieter J.
;
Dingemans, Alexandra E.
;
Groothuis-Oudshoorn, Catharina G.M.
;
Til, Janine A. van
;
Essers, Brigitte A.
, et al.
소스
Value in Health, 25, 1, 125-132
Full Text (ScienceDirect)
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7 . Academic Journal
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
저자
by
de Boer, Elke
;
Ockeloen, Charlotte W.
;
Kampen, Rosalie A.
;
Hampstead, Juliet E.
;
Dingemans, Alexander J.M.
, et al.
소스
In
Genetics in Medicine
November 2023 25(11)
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7 . Periodical
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1variants and comparison to fibroblast cells
저자
by
Awamleh, Zain
;
Choufani, Sanaa
;
Wu, Wendy
;
Rots, Dmitrijs
;
Dingemans, Alexander J. M.
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p
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