E-LIB Suche - Ergebnisse für: MARBACH, Felix

1

P196: GestaltMatcher Database: A FAIR database for medical ..:

Lesmann, Hellen ; Moosa, Shahida ; Pantel, Tori...
Genetics in Medicine Open. 1 (2023) 1 - p. 100225 , 2023

2

Phenotypic characterization of seven individuals with Marba..:

Marbach, Felix ; Lipska‐Ziętkiewicz, Beata S. ; Knurowska, Agata...
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2627-2636 , 2022

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

3

Response to Briuglia et al:

Marbach, Felix ; Schaaf, Christian P.
Genetics in Medicine. 23 (2021) 2 - p. 423-424 , 2021

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

4

Growth hormone therapy in children with Schaaf-Yang-Syndrom:

Hebach, Nils ; Caro, Pilar ; Martin-Giacalone, Bailey...
Molecular Genetics and Metabolism. 132 (2021) - p. S84-S86 , 2021

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

5

A retrospective analysis of growth hormone therapy in child..:

Hebach, Nils R. ; Caro, Pilar ; Martin‐Giacalone, Bailey A....
Clinical Genetics. 100 (2021) 3 - p. 298-307 , 2021

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

6

Variants in PRKAR1B cause a neurodevelopmental disorder wit..:

Marbach, Felix ; Stoyanov, Georgi ; Erger, Florian...
Genetics in Medicine. 23 (2021) 8 - p. 1465-1473 , 2021

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

7

The adult phenotype of Schaaf-Yang syndrome:

Marbach, Felix ; Elgizouli, Magdeldin ; Rech, Megan...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

8

Calcyphosine-like (CAPSL) is regulated in Multiple Symmetri..:

Lindner, Angie ; Marbach, Felix ; Tschernitz, Sebastian...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

9

Functional Characterization of the BCR/JAK2 Fusion Gene in ..:

Marbach, Felix , 2015

Link: http://nbn-resolving.de/..

10

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9886139/. , 2023

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

11

GestaltMatcher Database - a FAIR database for medical imagi..:

Lesmann, Hellen ; Lyon, Gholson J ; Caro, Pilar...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10371103/. , 2023

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

12

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
https://doi.org/10.3389/fcell.2022.1020609. , 2023

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

13

Phenotypic characterization of seven individuals with Marba..:

Marbach, Felix ; Lipska-Zietkiewicz, Beata S ; Knurowska, Agata...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.62884. , 2022

Link: https://hal.science/hal-..

14

Phenotypic characterization of seven individuals with Marba..:

MARBACH, Felix ; LIPSKA-ZIETKIEWICZ, Beata S ; KNUROWSKA, Agata...
1552-4833 (Electronic) 1552-4825 (Linking). , 2022

Link: https://oskar-bordeaux.f..

15

Phenotypic characterization of seven individuals with Marba..:

Marbach, Felix ; Lipska-Zietkiewicz, Beata S ; Knurowska, Agata...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.62884. , 2022

Link: https://hal.science/hal-..