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1 . 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
Growth, body composition, and endocrine‐metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.
저자
by
Bouman, Arianne
;
Geelen, Joyce M.
;
Kummeling, Joost
;
Schenck, Annette
;
van der Zwan, Yvonne G.
, et al.
소스
American Journal of Medical Genetics. Part A; May2024, Vol. 194 Issue 5, p1-14, 14p
Scopus
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7 . Academic Journal
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.
저자
by
Vasireddi, Sunil K
;
Draksler, Tanja Zdolsek
;
Bouman, Arianne
;
Kummeling, Joost
;
Wheeler, Matthew
, et al.
소스
EP: Europace; Jan2024, Vol. 26 Issue 1, p1-7, 7p
Open Access (OUP)
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7 . Periodical
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 (JMG); 2024, Vol. 61 Issue: 6 p578-585, 8p
Full Text (BMJ Journals)
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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
Burger, Pauline
;
Colin, Florent
;
Strehle, Axelle
;
Mazzucotelli, Timothée
;
Collot, Nicole
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
Full Text (Clinical Key)
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
MEASURING ADAPTIVE BEHAVIOR IN PATIENTS WITH MENDELIAN NEURODEVELOPMENTAL DISORDERS. COMPARISON OF ABAS-3 AND DUTCH VINELAND SCALES.
저자
by
Kummeling, Joost
;
Vermeulen-Kalk, Karlijn
;
Souverein, Veerle
;
van Dongen, Linde C. M.
;
Oomens, Wouter
, et al.
소스
Clinical Neuropsychiatry
. Oct2023, Vol. 20 Issue 5, p453-461. 9p.
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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
. 8/25/2022, Vol. 22 Issue 1, p1-12. 12p. 7 Charts.
Open Access (BioMed Central)
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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
. Jun2021, Vol. 140 Issue 6, p885-896. 12p.
Scopus
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7 . Periodical
Characterization of SETD1Ahaploinsufficiency in humans and Drosophiladefines 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; June 2021, Vol. 26 Issue: 6 p2013-2024, 12p
Scopus
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7 . Academic Journal
PO-04-124 ARRHYTHMIAS INCLUDING ATRIAL FIBRILLATION IN KLEEFSTRA SYNDROME: A POSSIBLE EPIGENETIC LINK.
저자
by
Vasireddi, Sunil K.
;
Draksler, Tanja Zdolsek
;
Bouman, Arianne
;
Kummeling, Joost
;
Wheeler, Matthew T.
, et al.
소스
Heart Rhythm; 2023 Supplement, Vol. 20 Issue 5, pS597-S598, 2p
Full Text (Clinical Key)
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