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Van Schil, Kristof
42  Ergebnisse:
Personensuche X
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1

HomozygousSMAD6variants in two unrelated patients with cran..:

Luyckx, Ilse ; Walton, Isaac Scott ; Boeckx, Nele...
Journal of Medical Genetics.  61 (2024)  4 - p. 363-368 , 2024
Link: https://doi.org/10.1136/..
 
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2

From diagnosis to treatment in genetic epilepsies: Implemen..:

De Wachter, Matthias ; Schoonjans, An-Sofie ; Weckhuysen, Sarah...
European Journal of Paediatric Neurology.  48 (2024)  - p. 46-60 , 2024
Link: https://doi.org/10.1016/..
 
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3

CEP162 deficiency causes human retinal degeneration and rev..:

Nuzhat, Nafisa ; Van Schil, Kristof ; Liakopoulos, Sandra...
Journal of Clinical Investigation.  133 (2023)  8 - p. , 2023
Link: https://doi.org/10.1172/..
 
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4

A homozygous loss of function variant in POPDC3: From inval..:

De Ridder, Willem ; de Vries, Geert ; Van Schil, Kristof...
Neuromuscular Disorders.  33 (2023)  5 - p. 432-439 , 2023
Link: https://doi.org/10.1016/..
 
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5

Negative Molecular Diagnostics in Non-Syndromic Hearing Los..:

Clabout, Thomas ; Maes, Laurence ; Acke, Frederic...
Genes.  14 (2022)  1 - p. 105 , 2022
Link: https://doi.org/10.3390/..
 
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6

Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,
Aleman, Tomas S. ; Amati-Bonneau, Patrizia ; Arveiler, Benoît... - p. xi-xiv , 2022
Link: https://doi.org/10.1016/..
 
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7

Genetic testing techniques:

, In: Clinical Ophthalmic Genetics and Genomics,
Van Cauwenbergh, Caroline ; Van Schil, Kristof ; Bauwens, Miriam. - p. 7-12 , 2022
Link: https://doi.org/10.1016/..
 
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8

Characterization of HNRNPA1 mutations defines diversity in ..:

Beijer, Danique ; Kim, Hong Joo ; Guo, Lin...
JCI Insight.  6 (2021)  14 - p. , 2021
Link: https://doi.org/10.1172/..
 
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9

Loss of Function of RIMS2 Causes a Syndromic Congenital Con..:

Mechaussier, Sabrina ; Almoallem, Basamat ; Zeitz, Christina...
The American Journal of Human Genetics.  107 (2020)  3 - p. 580 , 2020
Link: https://doi.org/10.1016/..
 
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10

Loss of Function of RIMS2 Causes a Syndromic Congenital Con..:

Mechaussier, Sabrina ; Almoallem, Basamat ; Zeitz, Christina...
The American Journal of Human Genetics.  106 (2020)  6 - p. 859-871 , 2020
Link: https://doi.org/10.1016/..
 
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11

Correction: Mapping the genomic landscape of inherited reti..:

Van Schil, Kristof ; Naessens, Sarah ; Van de Sompele, Stijn...
Genetics in Medicine.  21 (2019)  8 - p. 1898 , 2019
Link: https://doi.org/10.1038/..
 
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12

Correction: Biallelic sequence and structural variants in R..:

Van de Sompele, Stijn ; Smith, Claire ; Karali, Marianthi...
Genetics in Medicine.  21 (2019)  4 - p. 1028 , 2019
Link: https://doi.org/10.1038/..
 
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13

Biallelic sequence and structural variants in RAX2 are a no..:

Van de Sompele, Stijn ; Smith, Claire ; Karali, Marianthi...
Genetics in Medicine.  21 (2019)  6 - p. 1319-1329 , 2019
Link: https://doi.org/10.1038/..
 
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14

Mapping the genomic landscape of inherited retinal disease ..:

Van Schil, Kristof ; Naessens, Sarah ; Van de Sompele, Stijn...
Genetics in Medicine.  20 (2018)  2 - p. 202-213 , 2018
Link: https://doi.org/10.1038/..
 
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15

arrEYE: a customized platform for high-resolution copy numb..:

Van Cauwenbergh, Caroline ; Van Schil, Kristof ; Cannoodt, Robrecht...
Genetics in Medicine.  19 (2017)  4 - p. 457-466 , 2017
Link: https://doi.org/10.1038/..
 
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