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Zweier, Markus
77
results:
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Online (77)
Mediatypes
Articles (Online) (23)
OpenAccess-fulltext (54)
Sorted by: Relevance
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?
1
Missense variants in ANO4 cause sporadic encephalopathic or..:
Yang, Fang
;
Begemann, Anais
;
Reichhart, Nadine
...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1184-1205 , 2024
Link:
https://doi.org/10.1016/..
?
2
Historic characteristics and mortality of patients in the S..:
Brouwers, Sofie
;
Heimgartner, Raphael
;
Laptseva, Natallia
...
Swiss Medical Weekly. 154 (2024) 2 - p. 3485 , 2024
Link:
https://doi.org/10.57187..
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3
Cover:
Grether, Anna
;
Ivanovski, Ivan
;
Russo, Martina
...
Molecular Genetics & Genomic Medicine. 11 (2023) 5 - p. , 2023
Link:
https://doi.org/10.1002/..
?
4
The current benefit of genome sequencing compared to exome ..:
Grether, Anna
;
Ivanovski, Ivan
;
Russo, Martina
...
Molecular Genetics & Genomic Medicine. 11 (2023) 5 - p. , 2023
Link:
https://doi.org/10.1002/..
?
5
A very mild phenotype in six individuals of a three‐generat..:
Frey, Tanja
;
Ivanovski, Ivan
;
Bahr, Angela
...
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2074-2082 , 2023
Link:
https://doi.org/10.1002/..
?
6
The genetic landscape and clinical implication of pediatric..:
Zanoni, Paolo
;
Steindl, Katharina
;
Sticht, Heinrich
...
European Journal of Human Genetics. 31 (2023) 7 - p. 784-792 , 2023
Link:
https://doi.org/10.1038/..
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7
Further characterization of Borjeson‐Forssman‐Lehmann syndr..:
Gerber, Céline B.
;
Fliedner, Anna
;
Bartsch, Oliver
...
Clinical Genetics. 102 (2022) 3 - p. 182-190 , 2022
Link:
https://doi.org/10.1111/..
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8
Assessing clinical utility of preconception expanded carrie..:
Boonsawat, Paranchai
;
Horn, Anselm H. C.
;
Steindl, Katharina
...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
9
Confirmation of Ogden syndrome as an X‐linked recessive fat..:
Gogoll, Laura
;
Steindl, Katharina
;
Joset, Pascal
...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2546-2560 , 2021
Link:
https://doi.org/10.1002/..
?
10
Genome-wide non-invasive prenatal testing in single- and mu..:
Oneda, Beatrice
;
Sirleto, Pietro
;
Baldinger, Rosa
...
European Journal of Obstetrics & Gynecology and Reproductive Biology. 252 (2020) - p. 19-29 , 2020
Link:
https://doi.org/10.1016/..
?
11
Danger of Herbal Tea: A Case of Acute Cholestatic Hepatitis..:
Ruperti-Repilado, Francisco Javier
;
Haefliger, Simon
;
Rehm, Sophia
...
Frontiers in Medicine. 6 (2019) - p. , 2019
Link:
https://doi.org/10.3389/..
?
12
Spatially clustering de novo variants in CYFIP2, encoding t..:
Deciphering Developmental Disorders (DDD) Study
;
Zweier, Markus
;
Begemann, Anaïs
...
European Journal of Human Genetics. 27 (2019) 5 - p. 747-759 , 2019
Link:
https://doi.org/10.1038/..
?
13
Prenatal diagnosis of HNF1B‐associated renal cysts: Is ther..:
Vasileiou, Georgia
;
Hoyer, Juliane
;
Thiel, Christian T.
...
Prenatal Diagnosis. 39 (2019) 12 - p. 1136-1147 , 2019
Link:
https://doi.org/10.1002/..
?
14
Elucidation of the phenotypic spectrum and genetic landscap..:
Boonsawat, Paranchai
;
Joset, Pascal
;
Steindl, Katharina
...
Genetics in Medicine. 21 (2019) 9 - p. 2043-2058 , 2019
Link:
https://doi.org/10.1038/..
?
15
Prevalence of genetic susceptibility for breast and ovarian..:
Kraemer, Dennis
;
Azzarello-Burri, Silvia
;
Steindl, Katharina
...
Swiss Medical Weekly. , 2019
Link:
https://doi.org/10.4414/..
1-15