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Feenstra, Ilse
85  Ergebnisse:
Personensuche X
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1

Lessons learned from rapid exome sequencing for 575 critica..:

Marouane, Abderrahim ; Neveling, Kornelia ; Deden, A. Chantal...
Frontiers in Genetics.  14 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

Exome sequencing in fetuses with congenital diaphragmatic h..:

Weller, Katinka ; Westra, Dineke ; Peters, Nina C. J....
Prenatal Diagnosis.  , 2024
Link: https://doi.org/10.1002/..
 
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3

All‐in‐one whole exome sequencing strategy with simultaneou..:

Faas, Brigitte H. W. ; Westra, Dineke ; de Munnik, Sonja A....
Prenatal Diagnosis.  43 (2023)  4 - p. 527-543 , 2023
Link: https://doi.org/10.1002/..
 
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4

TSHZ1-dependent gene regulation is essential for olfactory ..:

Ragancokova, Daniela ; Rocca, Elena ; Oonk, Anne M.M....
Journal of Clinical Investigation.  132 (2022)  16 - p. , 2022
Link: https://doi.org/10.1172/..
 
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5

Clinical impact of additional findings detected by genome-w..:

van Prooyen Schuurman, Lisanne ; Sistermans, Erik A. ; Van Opstal, Diane...
The American Journal of Human Genetics.  109 (2022)  6 - p. 1140-1152 , 2022
Link: https://doi.org/10.1016/..
 
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6

Clinical impact of additional findings detected by genome-w..:

van Prooyen Schuurman, Lisanne ; Sistermans, Erik A. ; Van Opstal, Diane...
The American Journal of Human Genetics.  109 (2022)  7 - p. 1344 , 2022
Link: https://doi.org/10.1016/..
 
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7

Lessons learned from unsolicited findings in clinical exome..:

van der Schoot, Vyne ; Haer-Wigman, Lonneke ; Feenstra, Ilse...
European Journal of Human Genetics.  30 (2021)  2 - p. 170-177 , 2021
Link: https://doi.org/10.1038/..
 
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8

Rapid whole exome sequencing in pregnancies to identify the..:

Deden, Chantal ; Neveling, Kornelia ; Zafeiropopoulou, Dimitra...
Prenatal Diagnosis.  40 (2020)  8 - p. 972-983 , 2020
Link: https://doi.org/10.1002/..
 
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9

The identification of a RNA splice variant in TULP1 in two ..:

Verbakel, Sanne K. ; Fadaie, Zeinab ; Klevering, B. Jeroen...
Molecular Genetics & Genomic Medicine.  7 (2019)  6 - p. , 2019
Link: https://doi.org/10.1002/..
 
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10

1 in 38 individuals at risk of a dominant medically actiona..:

Haer-Wigman, Lonneke ; van der Schoot, Vyne ; Feenstra, Ilse...
European Journal of Human Genetics.  27 (2018)  2 - p. 325-330 , 2018
Link: https://doi.org/10.1038/..
 
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11

De novo and inherited loss-of-function variants of ATP2B2 a..:

DOOFNL Consortium ; Smits, Jeroen J. ; Oostrik, Jaap...
Human Genetics.  138 (2018)  1 - p. 61-72 , 2018
Link: https://doi.org/10.1007/..
 
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12

Heterozygous missense variants of LMX1A lead to nonsyndromi..:

DOOFNL Consortium ; Wesdorp, Mieke ; de Koning Gans, Pia A. M....
Human Genetics.  137 (2018)  5 - p. 389-400 , 2018
Link: https://doi.org/10.1007/..
 
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13

Origin and clinical relevance of chromosomal aberrations ot..:

Van Opstal, Diane ; van Maarle, Merel C. ; Lichtenbelt, Klaske...
Genetics in Medicine.  20 (2018)  5 - p. 480-485 , 2018
Link: https://doi.org/10.1038/..
 
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14

Broadening the phenotype of DFNB28: Mutations in TRIOBP are..:

Wesdorp, Mieke ; van de Kamp, Jiddeke M. ; Hensen, Erik F....
Hearing Research.  347 (2017)  - p. 56-62 , 2017
Link: https://doi.org/10.1016/..
 
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15

Erratum: Guidelines for diagnostic next-generation sequenci..:

Matthijs, Gert ; Souche, Erika ; Alders, Mariëlle...
European Journal of Human Genetics.  24 (2016)  10 - p. 1515-1515 , 2016
Link: https://doi.org/10.1038/..
 
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