E-LIB Suche - Ergebnisse für: Bähr, Luzy

1

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uni..:

Kivrak Pfiffner, Fatma ; Koller, Samuel ; Ménétrey, Anika...
International Journal of Molecular Sciences. 23 (2022) 13 - p. 7382 , 2022

Link: https://doi.org/10.3390/..

2

Whole Exome Sequencing in Coloboma/Microphthalmia: Identifi..:

Haug, Patricia ; Koller, Samuel ; Maggi, Jordi...
Genes. 12 (2021) 1 - p. 65 , 2021

Link: https://doi.org/10.3390/..

3

Long-Range PCR-Based NGS Applications to Diagnose Mendelian..:

Maggi, Jordi ; Koller, Samuel ; Bähr, Luzy...
International Journal of Molecular Sciences. 22 (2021) 4 - p. 1508 , 2021

Link: https://doi.org/10.3390/..

4

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Revea..:

Lang, Elena ; Koller, Samuel ; Bähr, Luzy...
Translational Vision Science & Technology. 9 (2020) 7 - p. 47 , 2020

Link: https://doi.org/10.1167/..

5

Genotype–phenotype spectrum in isolated and syndromic nanop..:

Lang, Elena ; Koller, Samuel ; Atac, David...
Acta Ophthalmologica. 99 (2020) 4 - p. , 2020

Link: https://doi.org/10.1111/..

6

Complex optic nerve and macular hypoplasia in two siblings ..:

Gerth-Kahlert, Christina ; Tiwari, Amit ; Bahr, Angela...
Journal of American Association for Pediatric Ophthalmology and Strabismus. 20 (2016) 4 - p. e32 , 2016

Link: https://doi.org/10.1016/..

7

Biallelic Mutations inCRB1Underlie Autosomal Recessive Fami..:

Vincent, Ajoy ; Ng, Judith ; Gerth-Kahlert, Christina...
Investigative Opthalmology & Visual Science. 57 (2016) 6 - p. 2637 , 2016

Link: https://doi.org/10.1167/..

8

Next generation sequencing based identification of disease-..:

Tiwari, Amit ; Bahr, Angela ; Bähr, Luzy...
Scientific Reports. 6 (2016) 1 - p. , 2016

Link: https://doi.org/10.1038/..

9

HIBCH deficiency in a patient with phenotypic characteristi..:

Reuter, Miriam S. ; Sass, Jörn Oliver ; Leis, Thomas...
American Journal of Medical Genetics Part A. 164 (2014) 12 - p. 3162-3169 , 2014

Link: https://doi.org/10.1002/..

10

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uni..:

Kivrak Pfiffner, Fatma ; Koller, Samuel ; Ménétrey, Anika...
info:eu-repo/semantics/altIdentifier/doi/10.3390/ijms23137382. , 2022

Link: https://hdl.handle.net/2..

11

Long-Range PCR-Based NGS Applications to Diagnose Mendelian..:

Maggi, Jordi ; Koller, Samuel ; Bähr, Luzy...
info:eu-repo/semantics/altIdentifier/doi/10.3390/ijms22041508. , 2021

Link: https://hdl.handle.net/2..

12

Whole Exome Sequencing in Coloboma/Microphthalmia: Identifi..:

Haug, Patricia ; Koller, Samuel ; Maggi, Jordi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7825129/. , 2021

Link: http://www.ncbi.nlm.nih...

13

Long-Range PCR-Based NGS Applications to Diagnose Mendelian..:

Maggi, Jordi ; Koller, Samuel ; Bähr, Luzy...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913364/. , 2021

Link: http://www.ncbi.nlm.nih...

14

Whole Exome Sequencing in Coloboma/Microphthalmia: Identifi..:

Haug, Patricia ; Koller, Samuel ; Maggi, Jordi...
info:eu-repo/semantics/altIdentifier/doi/10.3390/genes12010065. , 2021

Link: https://hdl.handle.net/2..

15

Genetic Analysis in a Swiss Cohort of Bilateral Congenital ..:

Rechsteiner, Delia ; Issler, Lydia ; Koller, Samuel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138751/. , 2021

Link: http://www.ncbi.nlm.nih...