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Zweier, Markus
77  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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