E-LIB Suche - Ergebnisse für: Gallati, Sabina

1

Predicting parameters of airway dynamics generated from ins..:

Kraemer, Richard ; Smith, Hans-Jürgen ; Reinstaedtler, Juergen..
BMJ Open Respiratory Research. 11 (2024) 1 - p. e002142 , 2024

Link: https://doi.org/10.1136/..

2

Assessment of functional diversities in patients with Asthm..:

Kraemer, Richard ; Baty, Florent ; Smith, Hans-Jürgen...
PLOS ONE. 19 (2024) 2 - p. e0292270 , 2024

Link: https://doi.org/10.1371/..

3

Genetische Beratung braucht Zeit und Expertise:

Amstad, Hermann ; Benedetti, Cristina ; Gallati, Sabina
Schweizerische Ärztezeitung. , 2022

Link: https://doi.org/10.4414/..

4

Compound‐heterozygous GRIN2A null variants associated with ..:

Strehlow, Vincent ; Rieubland, Claudine ; Gallati, Sabina...
Epilepsia. 63 (2022) 10 - p. , 2022

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

5

Comparison of two sweat test systems for the diagnosis of c..:

Rueegg, Corina S. ; Kuehni, Claudia E. ; Gallati, Sabina...
Pediatric Pulmonology. 54 (2019) 3 - p. 264-272 , 2019

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

6

Prenatal Alcohol Exposure Is Associated With Adverse Cognit..:

Frey, Stefan ; Eichler, Anna ; Stonawski, Valeska...
Frontiers in Behavioral Neuroscience. 12 (2018) - p. , 2018

Link: https://doi.org/10.3389/..

7

Characterization of two novel intronic OPA1 mutations resul..:

Bolognini, Ramona ; Gerth-Kahlert, Christina ; Abegg, Mathias...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

8

Rothmund–Thomson Syndrome: novel pathogenic mutations and f..:

Suter, Aude‐Annick ; Itin, Peter ; Heinimann, Karl...
Molecular Genetics & Genomic Medicine. 4 (2016) 3 - p. 359-366 , 2016

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

9

SDHA mutation with dominant transmission results in complex..:

Courage, Carolina ; Jackson, Christopher B. ; Hahn, Dagmar...
American Journal of Medical Genetics Part A. 173 (2016) 1 - p. 225-230 , 2016

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

10

96-77: Phenotypic Spectrum of HCN4 Mutations: Further Evide..:

Servatius, Helge ; Pless, Stephan A. ; Schaller, Andre...
EP Europace. 18 (2016) suppl_1 - p. i81-i81 , 2016

Link: https://doi.org/10.1093/..

11

Disease-modifying genes and monogenic disorders: experience..:

Gallati, Sabina
The Application of Clinical Genetics. , 2014

Link: https://doi.org/10.2147/..

12

15q26.1 microdeletion encompassing only CHD2 and RGMA in tw..:

Courage, Carolina ; Houge, Gunnar ; Gallati, Sabina..
European Journal of Medical Genetics. 57 (2014) 9 - p. 520-523 , 2014

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

13

Newborn screening for cystic fibrosis in Switzerland — Cons..:

Torresani, Toni ; Fingerhut, Ralph ; Rueegg, Corina S....
Journal of Cystic Fibrosis. 12 (2013) 6 - p. 667-674 , 2013

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

14

Loss of insulin-induced activation of TRPM6 magnesium chann..:

Nair, Anil V. ; Hocher, Berthold ; Verkaart, Sjoerd...
Proceedings of the National Academy of Sciences. 109 (2012) 28 - p. 11324-11329 , 2012

Link: https://doi.org/10.1073/..

15

qPCR-based mitochondrial DNA quantification: Influence of t..:

Jackson, Christopher B. ; Gallati, Sabina ; Schaller, André
Biochemical and Biophysical Research Communications. 423 (2012) 3 - p. 441-447 , 2012

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