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1 . Academic Journal
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
저자
by
Rots, Dmitrijs
;
Bouman, Arianne
;
Yamada, Ayumi
;
Levy, Michael
;
Dingemans, Alexander J.M.
, et al.
소스
In
The American Journal of Human Genetics
8 August 2024 111(8):1605-1625
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7 . Academic Journal
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome
저자
by
Colin, Florent
;
Burger, Pauline
;
Mazzucotelli, Timothée
;
Strehle, Axelle
;
Kummeling, Joost
, et al.
소스
In
Genetics in Medicine Open
2023 1(1)
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7 . Academic Journal
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA
저자
by
Romain Coutelle
;
Morgane Boedec
;
Karlijn Vermeulen
;
Joost Kummeling
;
David A. Koolen
, et al.
소스
BMC Psychiatry, Vol 22, Iss 1, Pp 1-12 (2022)
Open Access (BioMed Central)
Open Access (DOAJ)
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7 . Academic Journal
O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome
저자
by
Pauline Burger
;
Florent Colin
;
Axelle Strehle
;
Timothée Mazzucotelli
;
Nicole Collot
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100699- (2023)
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7 . Academic Journal
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome
저자
by
Florent Colin
;
Pauline Burger
;
Timothée Mazzucotelli
;
Axelle Strehle
;
Joost Kummeling
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100817- (2023)
Full Text (Clinical Key)
Full Text (ScienceDirect)
Open Access (DOAJ)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA
저자
by
Coutelle, Romain
;
Boedec, Morgane
;
Vermeulen, Karlijn
;
Kummeling, Joost
;
Koolen, David A.
, et al.
소스
BMC Psychiatry
. 22(1)
Open Access (BioMed Central)
Scopus
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7 . Academic Journal
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
저자
by
Kummeling, Joost
;
Stremmelaar, Diante E.
;
Raun, Nicholas
;
Reijnders, Margot R. F.
;
Willemsen, Marjolein H.
, et al.
소스
Molecular Psychiatry
. 26(6):2013-2024
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7 . Academic Journal
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
저자
by
Jeanne, Médéric
;
Vuillaume, Marie-Laure
;
Ung, Dévina C.
;
Vancollie, Valerie E.
;
Wagner, Christel
, et al.
소스
Human Genetics
. 140(6):885-896
Scopus
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7 . Academic Journal
Exploratory analysis of the effect of mirabegron on urodynamic sensation parameters and urethral pressure variations
저자
by
Kummeling, Maxime T. M.
;
Egberts, Joost
;
Elzevier, Henk W.
;
van Koeveringe, Gommert A.
;
Putter, Hein
, et al.
소스
International Urogynecology Journal
. 32(1):87-93
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7 . Academic Journal
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
저자
by
Morison, Lottie D.
;
Kennis, Milou G. P.
;
Rots, Dmitrijs
;
Bouman, Arianne
;
Kummeling, Joost
, et al.
소스
Journal of Medical Genetics; Jun2024, Vol. 61 Issue 6, p578-585, 54p
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