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1 . Academic Journal
Role of CAMK2D in neurodevelopment and associated conditions
저자
by
Rigter, Pomme M.F.
;
de Konink, Charlotte
;
Dunn, Matthew J.
;
Proietti Onori, Martina
;
Humberson, Jennifer B.
, et al.
소스
In
The American Journal of Human Genetics
1 February 2024 111(2):364-382
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7 . Academic Journal
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice
저자
by
De Wachter, Matthias
;
Schoonjans, An-Sofie
;
Weckhuysen, Sarah
;
Van Schil, Kristof
;
Löfgren, Ann
, et al.
소스
In
European Journal of Paediatric Neurology
January 2024 48:46-60
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7 . Academic Journal
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
저자
by
Flex, Elisabetta
;
Martinelli, Simone
;
Van Dijck, Anke
;
Ciolfi, Andrea
;
Cecchetti, Serena
, et al.
소스
In
The American Journal of Human Genetics
5 September 2019 105(3):493-508
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7 . Academic Journal
Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum
저자
by
Demeulenaere, Sofie
;
Beysen, Diane
;
De Veuster, Ilse
;
Reyniers, Edwin
;
Kooy, Frank
, et al.
소스
In
European Journal of Medical Genetics
August 2019 62(8)
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7 . Academic Journal
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities
저자
by
Van Dijck, Anke
;
van der Werf, Ilse M.
;
Reyniers, Edwin
;
Scheers, Stefaan
;
Azage, Meron
, et al.
소스
In
European Journal of Medical Genetics
October 2015 58(10):503-508
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7 . Academic Journal
Prolonged right ventricular ejection delay identifies high risk patients and gender differences in Brugada syndrome
저자
by
Van Malderen, Sophie C.H.
;
Kerkhove, Dirk
;
Theuns, Dominic A.M.J.
;
Weytjens, Caroline
;
Droogmans, Steven
, et al.
소스
In
International Journal of Cardiology
15 July 2015 191:90-96
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7 . Periodical
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
저자
by
Layo-Carris, Dana E.
;
Lubin, Emily E.
;
Sangree, Annabel K.
;
Clark, Kelly J.
;
Durham, Emily L.
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-10, 10p
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7 .
Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report
저자
by
Thys, Liene
;
Meuwissen, Marije
;
Janssens, Katrien
;
Beysen, Diane
.
소스
In
Heliyon
15 January 2024 10(1)
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6 .
Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome
저자
by
Rosenblum, Jessica
;
Van der Veeken, Lennart
;
Aertsen, Michael
;
Meuwissen, Marije
;
Jansen, Anna C.
.
소스
In
European Journal of Medical Genetics
November 2023 66(11)
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7 . Academic Journal
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum.
저자
by
Thys, Liene
;
Beysen, Diane
;
Jansen, Anna
;
Janssens, Katrien
;
Meuwissen, Marije
.
소스
American Journal of Medical Genetics. Part A; Sep2023, Vol. 191 Issue 9, p2451-2453, 3p
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