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Röthlisberger, B.
113  results:
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1

Sodium taurocholate co-transporting polypeptide deficiency:

Schneider, AL ; Köhler, H. ; Röthlisberger, B...
Clinics and Research in Hepatology and Gastroenterology.  46 (2022)  3 - p. 101824 , 2022
Link: https://doi.org/10.1016/..
 
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2

New insights into the performance of human whole-exome capt..:

Meienberg, J. ; Zerjavic, K. ; Keller, I....
Nucleic Acids Research.  43 (2015)  11 - p. e76-e76 , 2015
Link: https://doi.org/10.1093/..
 
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3

Exome sequencing identifies mutations inKIF14as a novel cau..:

Filges, I. ; Nosova, E. ; Bruder, E....
Clinical Genetics.  86 (2013)  3 - p. 220-228 , 2013
Link: https://doi.org/10.1111/..
 
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4

Parental origin of apparently balanced de novo complex chro..:

Grossmann, V ; Höckner, M ; Karmous‐Benailly, H...
Clinical Genetics.  78 (2010)  6 - p. 548-553 , 2010
Link: https://doi.org/10.1111/..
 
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5

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linke..:

Filges, I ; Röthlisberger, B ; Blattner, A...
Clinical Genetics.  79 (2010)  1 - p. 79-85 , 2010
Link: https://doi.org/10.1111/..
 
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6

Meiotic origin of two ring chromosomes 18 in a girl with de..:

Baumer, A. ; Giovannucci Uzielli, M.L. ; Guarducci, S....
American Journal of Medical Genetics.  113 (2002)  1 - p. 101-104 , 2002
Link: https://doi.org/10.1002/..
 
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7

Severe intra-uterine growth retardation in a patient with m..:

Balmer, D. ; Baumer, A. ; Röthlisberger, B..
Prenatal Diagnosis.  19 (1999)  11 - p. 1061-1064 , 1999
Link: https://doi.org/10.1002/..
 
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8

22q11.2 deletions in a series of patients with non‐selectiv..:

Fokstuen, S. ; Arbenz, U. ; Artan, S....
Clinical Genetics.  53 (1998)  1 - p. 63-69 , 1998
Link: https://doi.org/10.1111/..
 
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9

A New de novo BRCA1 Mutation in a Young Breast Cancer Patie..:

Scherz A ; Stoll S ; Rothlisberger B.
https://www.dovepress.com/a-new-de-novo-brca1-mutation-in-a-young-breast-cancer-patient-a-case-r-peer-reviewed-fulltext-article-TACG.  , 2023
Link: https://doaj.org/article..
 
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10

Sodium taurocholate co-transporting polypeptide deficiency:

Schneider, Myriam Esther Anaïs ; Köhler, H ; Röthlisberger, B..
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.clinre.2021.101824.  , 2022
Link: https://archive-ouverte...
 
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11

Update Swiss guideline for counselling and testing for pred..:

Stoll, S ; Unger, S ; Azzarello-Burri, S...
info:eu-repo/semantics/altIdentifier/doi/10.4414/SMW.2021.w30038.  , 2021
Link: https://serval.unil.ch/n..
 
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12

An evaluation of the challenges to developing tumor BRCA1 a..:

Ellison, G ; Ahdesmäki, M ; Luke, S...
Human mutation, 2018, 39 (3), pp. 394 - 405.  , 2018
Link: https://repository.icr.a..
 
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13

An evaluation of the challenges to developing tumor BRCA1 a..:

Ellison, G ; Ahdesmaki, M ; Luke, S...
issn:1059-7794.  , 2018
Link: http://hdl.handle.net/11..
 
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14

Supernumerary marker chromosome (1) of paternal origin and ..:

Rothlisberger, B ; Zerova, T ; Kotzot, D...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734780.  , 2001
Link: http://www.ncbi.nlm.nih...
 
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15

Maternal uniparental isodisomy 11q13→qter in a dysmorphic a..:

Kotzot, D ; Rothlisberger, B ; Riegel, M.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734778.  , 2001
Link: http://www.ncbi.nlm.nih...
 
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