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Peters, Sophia
596  Ergebnisse:
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1

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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2

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/..
 
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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)  1 - p. 96-118 , 2024
Link: https://doi.org/10.1016/..
 
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4

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..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

A MT-TL1 variant identified by whole exome sequencing in an..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie...
European Journal of Human Genetics.  29 (2021)  9 - p. 1359-1368 , 2021
Link: https://doi.org/10.1038/..
 
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