E-LIB Suche - Ergebnisse für: Peters, Sophia

1

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1239 , 2024

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

2

Next-generation phenotyping integrated in a national framew..:

Schmidt, Axel ; Danyel, Magdalena ; Grundmann, Kathrin...
Nature Genetics. 56 (2024) 8 - p. 1644-1653 , 2024

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

3

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics. 111 (2024) 4 - p. 805 , 2024

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

4

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics. 111 (2024) 1 - p. 96-118 , 2024

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

5

CO2-Fixierung auf der frühen Erde mittels präbiotischer K..

ein neuer Erklärungsansatz für den Ursprung der organisch...

Peters, Sophia , 2023

Link: https://nbn-resolving.de..

6

Variants in FGF10 cause early onset of severe childhood int..:

Schütz, Katharina ; Schmidt, Axel ; Schwerk, Nicolaus...
Pediatric Pulmonology. 58 (2023) 11 - p. 3095-3105 , 2023

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

7

Wnt genes in colonic polyposis predisposition:

Quintana, Isabel ; Terradas, Mariona ; Mur, Pilar...
Genes & Diseases. 10 (2023) 3 - p. 753-757 , 2023

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

8

Synthesis of prebiotic organics from CO2 by catalysis with ..:

Peters, Sophia ; Semenov, Dmitry A. ; Hochleitner, Rupert.
Scientific Reports. 13 (2023) 1 - p. , 2023

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

9

GestaltMatcher facilitates rare disease matching using faci..:

Hsieh, Tzung-Chien ; Bar-Haim, Aviram ; Moosa, Shahida...
Nature Genetics. 54 (2022) 3 - p. 349-357 , 2022

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

10

Next‐generation phenotyping contributing to the identificat..:

Brand, Fabian ; Vijayananth, Aswinkumar ; Hsieh, Tzung‐Chien...
Human Mutation. 43 (2022) 11 - p. 1659-1665 , 2022

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

11

Mackinawite‐Supported Reduction of C1Substrates into Prebio..:

Grosch, Mario ; Stiebritz, Martin T. ; Bolney, Robert...
ChemSystemsChem. 4 (2022) 5 - p. , 2022

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

12

Germline mutations inWNK2could be associated with serrated ..:

Soares de Lima, Yasmin ; Arnau-Collell, Coral ; Muñoz, Jenifer...
Journal of Medical Genetics. 60 (2022) 6 - p. 557-567 , 2022

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

13

Mackinawite‐Supported Reduction of C1 Substrates into Prebi..:

Grosch, Mario ; Stiebritz, Martin T. ; Bolney, Robert...
ChemSystemsChem. 4 (2022) 5 - p. , 2022

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

14

Front Cover: Mackinawite‐Supported Reduction of C1Substrate..:

Grosch, Mario ; Stiebritz, Martin T. ; Bolney, Robert...
ChemSystemsChem. 4 (2022) 5 - p. , 2022

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

15

Solving the genetic aetiology of hereditary gastrointestina..:

Sommer, Anna K. ; te Paske, Iris B.A.W. ; Garcia-Pelaez, José...
European Journal of Medical Genetics. 65 (2022) 5 - p. 104475 , 2022

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