E-LIB Suche - Ergebnisse für: Engels, Hartmut

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) 1 - p. 96-118 , 2024

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

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/..

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) 6 - p. 1239 , 2024

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

4

Episignature analysis of moderate effects and mosaics:

Oexle, Konrad ; Zech, Michael ; Stühn, Lara G....
European Journal of Human Genetics. 31 (2023) 9 - p. 1032-1039 , 2023

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

5

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/..

6

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/..

7

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/..

8

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/..

9

Occurrence of a paroxysmal nocturnal hemoglobinuria clone i..:

Knaus, Alexej ; Vergez, François ; Garcia, Cédric...
Haematologica. 107 (2022) 8 - p. 1989-1993 , 2022

Link: https://doi.org/10.3324/..

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

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

TBK1 and TNFRSF13B mutations and an autoinflammatory diseas..:

Schmidt, Axel ; Peters, Sophia ; Knaus, Alexej...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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

13

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/..

14

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/..

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/..