E-LIB Suche - Ergebnisse für: Weis, Denisa

1

Biallelic Cys141Tyr variant of SEL1L is associated with neu..:

Weis, Denisa ; Lin, Liangguang L. ; Wang, Huilun H....
Journal of Clinical Investigation. 134 (2024) 2 - p. , 2024

Link: https://doi.org/10.1172/..

2

Prognostic Value of Genotype–Phenotype Correlations in X-Li..:

Kušíková, Katarína ; Šoltýsová, Andrea ; Ficek, Andrej...
Genes. 14 (2023) 12 - p. 2174 , 2023

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

3

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine. 25 (2023) 1 - p. 135-142 , 2023

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

4

Ultra-conserved non-coding sequences within the FOXF1 enhan..:

Szafranski, Przemyslaw ; Majewski, Tadeusz ; Yıldız Bölükbaşı, Esra...
Genes & Diseases. 9 (2022) 6 - p. 1423-1426 , 2022

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

5

Singleton exome sequencing of 90 fetuses with ultrasound an..:

Smogavec, Mateja ; Gerykova Bujalkova, Maria ; Lehner, Reinhard...
European Journal of Human Genetics. 30 (2022) 4 - p. 428-438 , 2022

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

6

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopm..:

Nagy, Dóra ; Verheyen, Sarah ; Wigby, Kristen M....
Genes. 13 (2022) 1 - p. 154 , 2022

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

7

Low‐level mosaicism in tuberous sclerosis complex in four u..:

Manzanilla‐Romero, Héctor Hugo ; Weis, Denisa ; Schnaiter, Simon.
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3851-3858 , 2021

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

8

Case Report and Review of the Literature: A New and a Recur..:

Kušíková, Katarína ; Feichtinger, René Günther ; Csillag, Bernhard...
Frontiers in Pediatrics. 9 (2021) - p. , 2021

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

9

Correction to: Neutropenia and intellectual disability are ..:

Wortmann, Saskia B. ; Ziętkiewicz, Szymon ; Guerrero-Castillo, Sergio...
Genetics in Medicine. 23 (2021) 9 - p. 1789 , 2021

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

10

Neutropenia and intellectual disability are hallmarks of bi..:

Wortmann, Saskia B. ; Ziętkiewicz, Szymon ; Guerrero-Castillo, Sergio...
Genetics in Medicine. 23 (2021) 9 - p. 1705-1714 , 2021

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

11

Biallelic Cys141Tyr variant of SEL1L is associated with neu..:

Weis, Denisa ; Lin, Liangguang L ; Wang, Huilun H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10786703/. , 2024

Link: http://www.ncbi.nlm.nih...

12

CUX1-related neurodevelopmental disorder: deep insights int..:

Oppermann, Henry ; Marcos-Grañeda, Elia ; Weiss, Linnea A...
#PLACEHOLDER_PARENT_METADATA_VALUE#. , 2023

Link: http://hdl.handle.net/10..

13

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
https://discovery.ucl.ac.uk/id/eprint/10165041/1/Houlden_awad039.pdf. , 2023

Link: https://discovery.ucl.ac..

14

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
https://boris.unibe.ch/178597/. , 2023

Link: https://boris.unibe.ch/1..

15

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx. , 2023

Link: https://eprints.soton.ac..