E-LIB Suche - Ergebnisse für: Cremer, Hartmut

1

Grundlagen der Histopathologie

Atlas und Lehrbuch

Cremer, Hartmut ; Wheater, Paul R. , 1987

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) 1 - p. 96-118 , 2024

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

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) 6 - p. 1239 , 2024

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

5

Hemizygous variants in protein phosphatase 1 regulatory sub..:

Liu, Zhigang ; Xin, Baozhong ; Smith, Iris N...
Human Molecular Genetics. 32 (2023) 20 - p. 2981-2995 , 2023

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

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

TapA acts as specific chaperone in TasA filament formation ..:

Roske, Yvette ; Lindemann, Florian ; Diehl, Anne...
Proceedings of the National Academy of Sciences. 120 (2023) 17 - p. , 2023

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

8

BRAT1–related disorders: phenotypic spectrum and phenotype-..:

Engel, Camille ; Valence, Stéphanie ; Delplancq, Geoffroy...
European Journal of Human Genetics. , 2023

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

9

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/..

10

Acquired von Willebrand syndrome in ECMO patients: A 3-year..:

Panholzer, Bernd ; Bajorat, Tido ; Haneya, Assad...
Blood Cells, Molecules, and Diseases. 87 (2021) - p. 102526 , 2021

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

11

Pathogenic SPTBN1 variants cause an autosomal dominant neur..:

Cousin, Margot A. ; Creighton, Blake A. ; Breau, Keith A....
Nature Genetics. 53 (2021) 7 - p. 1006-1021 , 2021

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

12

New insights into the clinical and molecular spectrum of th..:

Begemann, Anaïs ; Sticht, Heinrich ; Begtrup, Amber...
Genetics in Medicine. 23 (2021) 3 - p. 543-554 , 2021

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

13

Nine newly identified individuals refine the phenotype asso..:

Windheuser, Isabelle C. ; Becker, Jessica ; Cremer, Kirsten...
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 1021-1031 , 2020

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

14

Crystal structure of Q4D6Q6, a conserved kinetoplastid-spec..:

D'Andréa, Éverton Dias ; Roske, Yvette ; Oliveira, Guilherme A.P. de...
Journal of Structural Biology. 211 (2020) 2 - p. 107536 , 2020

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

15

KCNC1‐related disorders: new de novo variants expand the ph..:

Park, Joohyun ; Koko, Mahmoud ; Hedrich, Ulrike B. S....
Annals of Clinical and Translational Neurology. 6 (2019) 7 - p. 1319-1326 , 2019

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