E-LIB Suche - Ergebnisse für: Hempel, Maja

1

Biallelic loss-of-function variants of SLC12A9 cause lysoso..:

Accogli, Andrea ; Park, Young N. ; Lenk, Guy M....
Genetics in Medicine. 26 (2024) 5 - p. 101097 , 2024

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

2

Impact of genetic and non-genetic factors on phenotypic div..:

Hammann, Nicole ; Lenz, Dominic ; Baric, Ivo...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108118 , 2024

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

3

A combination of long and short read genomics reveals frequ..:

Schuy, Jakob ; Sæther, Kristine Bilgrav ; Lisfeld, Jasmin...
Genetics in Medicine Open. , 2024

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

4

Comparative analysis of gene and disease selection in genom..:

Betzler, Isabel R. ; Hempel, Maja ; Mütze, Ulrike...
Journal of Inherited Metabolic Disease. , 2024

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

5

Fatty acid synthesis suppresses dietary polyunsaturated fat..:

Worthmann, Anna ; Ridder, Julius ; Piel, Sharlaine Y. L....
Nature Communications. 15 (2024) 1 - p. , 2024

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

6

European Autism GEnomics Registry (EAGER): protocol for a m..:

Bloomfield, Madeleine ; Lautarescu, Alexandra ; Heraty, Síofra...
BMJ Open. 14 (2024) 6 - p. e080746 , 2024

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

7

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine. 25 (2023) 11 - p. 100964 , 2023

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

8

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, Rauan ; Rad, Aboulfazl ; Lin, Sheng-Jia...
Brain. 147 (2023) 4 - p. 1436-1456 , 2023

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

9

AXIN1 bi-allelic variants disrupting the C-terminal DIX dom..:

Terhal, Paulien ; Venhuizen, Anton J. ; Lessel, Davor...
The American Journal of Human Genetics. 110 (2023) 9 - p. 1470-1481 , 2023

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

10

Expanding the phenotypic and biochemical spectrum of NDUFAF..:

van der Ven, Amelie T. ; Cabrera-Orefice, Alfredo ; Wente, Isabell...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107675 , 2023

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

11

Genotype-phenotype correlations in RHOBTB2-associated neuro..:

Langhammer, Franziska ; Maroofian, Reza ; Badar, Rueda...
Genetics in Medicine. 25 (2023) 8 - p. 100885 , 2023

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

12

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal...
The American Journal of Human Genetics. 110 (2023) 6 - p. 963-978 , 2023

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

13

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine. 25 (2023) 10 - p. 100927 , 2023

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

14

Clinical implementation of RNA sequencing for Mendelian dis..:

Yépez, Vicente A. ; Gusic, Mirjana ; Kopajtich, Robert...
Genome Medicine. 14 (2022) 1 - p. , 2022

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

15

Biallelic variants in ZNF142 lead to a syndromic neurodevel..:

Christensen, Maria B. ; Levy, Amanda M. ; Mohammadi, Nazanin A....
Clinical Genetics. 102 (2022) 2 - p. 98-109 , 2022

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