E-LIB Suche - Ergebnisse für: Kalscheuer, Vera M.

1

Molecular consequences of PQBP1 deficiency, involved in the..:

Courraud, Jérémie ; Engel, Camille ; Quartier, Angélique...
Molecular Psychiatry. 29 (2023) 2 - p. 287-296 , 2023

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

2

Aberrant phase separation and nucleolar dysfunction in rare..:

Mensah, Martin A. ; Niskanen, Henri ; Magalhaes, Alexandre P....
Nature. , 2023

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

3

Integration of Hi-C with short and long-read genome sequenc..:

Schöpflin, Robert ; Melo, Uirá Souto ; Moeinzadeh, Hossein...
Nature Communications. 13 (2022) 1 - p. , 2022

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

4

Large-Scale Functional Assessment of Genes Involved in Rare..:

Meziane, Hamid ; Birling, Marie-Christine ; Wendling, Olivia...
Biomedicines. 10 (2022) 12 - p. 3148 , 2022

Link: https://doi.org/10.3390/..

5

Whole genome sequencing identifies a duplicated region enco..:

Mehvari, Sepideh ; Larti, Farzaneh ; Hu, Hao...
Molecular Genetics & Genomic Medicine. 8 (2020) 10 - p. , 2020

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

6

Comprehensive genotype‐phenotype correlation in AP‐4 defici..:

Beheshtian, Maryam ; Akhtarkhavari, Tara ; Mehvari, Sepideh...
Clinical Genetics. 99 (2020) 1 - p. 187-192 , 2020

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

7

Novel pathogenic EIF2S3 missense variants causing clinicall..:

Kotzaeridou, Urania ; Young‐Baird, Sara K. ; Suckow, Vanessa...
Clinical Genetics. 98 (2020) 5 - p. 507-514 , 2020

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

8

A missense mutation in the CSTF2 gene that impairs the func..:

Grozdanov, Petar N ; Masoumzadeh, Elahe ; Kalscheuer, Vera M...
Nucleic Acids Research. 48 (2020) 17 - p. 9804-9821 , 2020

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

9

TAF1, associated with intellectual disability in humans, is..:

Gudmundsson, Sanna ; Wilbe, Maria ; Filipek-Górniok, Beata...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

10

Mutation p.R356Q in the Collybistin Phosphoinositide Bindin..:

Chiou, Tzu-Ting ; Long, Philip ; Schumann-Gillett, Alexandra...
Frontiers in Molecular Neuroscience. 12 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

11

Identification of disease‐causing variants in the EXOSC gen..:

Beheshtian, Maryam ; Fattahi, Zohreh ; Fadaee, Mahsa...
Clinical Genetics. 95 (2019) 6 - p. 718-725 , 2019

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

12

Multigenic truncation of the semaphorin–plexin pathway by a..:

Nazaryan‐Petersen, Lusine ; Oliveira, Inês R. ; Mehrjouy, Mana M....
Human Mutation. , 2019

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

13

X chromosome dosage and presence of SRY shape sex-specific ..:

Ho, Bianca ; Greenlaw, Keelin ; Al Tuwaijri, Abeer...
Biology of Sex Differences. 9 (2018) 1 - p. , 2018

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

14

GPR126: A novel candidate gene implicated in autosomal rece..:

Hosseini, Masoumeh ; Fattahi, Zohreh ; Abedini, Seyedeh Sedigheh...
American Journal of Medical Genetics Part A. 179 (2018) 1 - p. 13-19 , 2018

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

15

A recurrent missense variant inSLC9A7causes nonsyndromic X-..:

Khayat, Wujood ; Hackett, Anna ; Shaw, Marie...
Human Molecular Genetics. 28 (2018) 4 - p. 598-614 , 2018

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