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Kroes, Hester Y
103  Ergebnisse:
Personensuche X
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1

Pathogenic variants in KMT2C result in a neurodevelopmental..:

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Utilization of automated cilia analysis to characterize nov..:

Whiting, Kae R. ; Haer-Wigman, Lonneke ; Florijn, Ralph J....
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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3

A homozygous POLR1A variant causes leukodystrophy and affec..:

Misceo, Doriana ; Lirussi, Lisa ; Strømme, Petter...
Brain.  146 (2023)  8 - p. 3513-3527 , 2023
Link: https://doi.org/10.1093/..
 
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4

De novo missense variants in phosphatidylinositol kinase PI..:

Morleo, Manuela ; Venditti, Rossella ; Theodorou, Evangelos...
The American Journal of Human Genetics.  110 (2023)  8 - p. 1377-1393 , 2023
Link: https://doi.org/10.1016/..
 
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5

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to ..:

Vázquez-Domínguez, Irene ; Duijkers, Lonneke ; Fadaie, Zeinab...
Cells.  11 (2022)  22 - p. 3640 , 2022
Link: https://doi.org/10.3390/..
 
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6

Generation of a patient-derived induced pluripotent cell li..:

Vázquez-Domínguez, Irene ; Kwint, Michael ; Kroes, Hester Y...
Stem Cell Research.  60 (2022)  - p. 102689 , 2022
Link: https://doi.org/10.1016/..
 
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7

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gen..:

Haer-Wigman, Lonneke ; den Ouden, Amber ; van Genderen, Maria M....
npj Genomic Medicine.  7 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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8

Bilateral posterior lamellar corneal transplant surgery in ..:

Muijzer, Marc B. ; Kroes, Hester Y. ; van Hasselt, Peter M..
Clinical Case Reports.  10 (2022)  4 - p. , 2022
Link: https://doi.org/10.1002/..
 
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9

Stargardt disease: monitoring incidence and diagnostic tren..:

Runhart, Esmee H. ; Dhooge, Patty ; Meester‐Smoor, Magda...
Acta Ophthalmologica.  100 (2021)  4 - p. 395-402 , 2021
Link: https://doi.org/10.1111/..
 
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10

The phenotypic and genetic spectrum of patients with hetero..:

Franken, Gijs A. C. ; Müller, Dominik ; Mignot, Cyril...
Human Mutation.  42 (2021)  4 - p. 473-486 , 2021
Link: https://doi.org/10.1002/..
 
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11

De novo and biallelic DEAF1 variants cause a phenotypic spe..:

Nabais Sá, Maria J. ; Jensik, Philip J. ; McGee, Stacey R....
Genetics in Medicine.  21 (2019)  9 - p. 2059-2069 , 2019
Link: https://doi.org/10.1038/..
 
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12

Healthcare recommendations for Joubert syndrome:

Bachmann‐Gagescu, Ruxandra ; Dempsey, Jennifer C. ; Bulgheroni, Sara...
American Journal of Medical Genetics Part A.  182 (2019)  1 - p. 229-249 , 2019
Link: https://doi.org/10.1002/..
 
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13

Heterozygous loss-of-function variants of MEIS2 cause a tri..:

DDD study ; Verheije, Rosalind ; Kupchik, Gabriel S....
European Journal of Human Genetics.  27 (2018)  2 - p. 278-290 , 2018
Link: https://doi.org/10.1038/..
 
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14

GLS hyperactivity causes glutamate excess, infantile catara..:

Rumping, Lynne ; Tessadori, Federico ; Pouwels, Petra J W...
Human Molecular Genetics.  28 (2018)  1 - p. 96-104 , 2018
Link: https://doi.org/10.1093/..
 
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15

Clinical and genetic analyses of a Dutch cohort of 40 patie..:

Stokman, Marijn F. ; van der Zwaag, Bert ; van de Kar, Nicole C. A. J....
Pediatric Nephrology.  33 (2018)  10 - p. 1701-1712 , 2018
Link: https://doi.org/10.1007/..
 
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