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1 . 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
A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
저자
by
De Ridder, Willem
;
de Vries, Geert
;
Van Schil, Kristof
;
Deconinck, Tine
;
Mouly, Vincent
, et al.
소스
In
Neuromuscular Disorders
May 2023 33(5):432-439
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7 . Academic Journal
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
저자
by
Luyckx, Ilse
;
Walton, Isaac Scott
;
Boeckx, Nele
;
Van Schil, Kristof
;
Chingyiu Pang
, et al.
소스
Journal of Medical Genetics; Apr2024, Vol. 61 Issue 4, p363-368, 13p
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7 . Periodical
Homozygous SMAD6variants in two unrelated patients with craniosynostosis and radioulnar synostosis
저자
by
Luyckx, Ilse
;
Walton, Isaac Scott
;
Boeckx, Nele
;
Van Schil, Kristof
;
Pang, Chingyiu
, et al.
소스
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 4 p363-368, 6p
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7 . Academic Journal
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
저자
by
Nuzhat, Nafisa
;
Van Schil, Kristof
;
Liakopoulos, Sandra
;
Bauwens, Miriam
;
Rey, Alfredo Dueñas
, et al.
소스
Journal of Clinical Investigation
. 4/17/2023, Vol. 133 Issue 8, p1-13. 13p.
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7 . Academic Journal
Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and Predictors of a Genetic Cause.
저자
by
Boudewyns, An
;
van den Ende, Jenneke
;
Peeters, Nils
;
Van Camp, Guy
;
Hofkens-Van den Brandt, Anouk
, et al.
소스
Otology & Neurotology; Apr2023, Vol. 44 Issue 4, p360-366, 7p
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7 . Academic Journal
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
저자
by
Clabout, Thomas
;
Maes, Laurence
;
Acke, Frederic
;
Wuyts, Wim
;
Van Schil, Kristof
, et al.
소스
Genes
. Jan2023, Vol. 14 Issue 1, p105. 15p.
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7 . Academic Journal
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
저자
by
Mechaussier, Sabrina
;
Almoallem, Basamat
;
Zeitz, Christina
;
Van Schil, Kristof
;
Jeddawi, Laila
, et al.
소스
American Journal of Human Genetics
. Jun2020, Vol. 106 Issue 6, p859-871. 13p.
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7 . Academic Journal
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
저자
by
Van de Sompele, Stijn
;
Smith, Claire
;
Karali, Marianthi
;
Corton, Marta
;
Van Schil, Kristof
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 21(6):1319-1329
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7 . Periodical
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
저자
by
Van Schil, Kristof
;
Naessens, Sarah
;
Van de Sompele, Stijn
;
Carron, Marjolein
;
Aslanidis, Alexander
, et al.
소스
Genetics in Medicine; February 2018, Vol. 20 Issue: 2 p202-213, 12p
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