E-LIB Suche - Ergebnisse für: Schnabel, Franziska

1

De novo variants in FRYL are associated with developmental ..:

Pan, Xueyang ; Tao, Alice M. ; Lu, Shenzhao...
The American Journal of Human Genetics. 111 (2024) 4 - p. 742-760 , 2024

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

2

Natural history of adults with KBG syndrome: a physician-re..:

Bayat, Allan ; Grimes, Hannah ; de Boer, Elke...
Genetics in Medicine. , 2024

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

3

Aufbau eines neuen Patientenregisters für Gorlin-Goltz-Synd..:

Schnabel, Franziska
Medizinische Genetik. 35 (2023) 1 - p. 79-80 , 2023

Link: https://doi.org/10.1515/..

4

Homozygous loss-of-function variants in FILIP1 cause autoso..:

Schnabel, Franziska ; Schuler, Elisabeth ; Al-Maawali, Almundher...
Human Genetics. 142 (2023) 4 - p. 543-552 , 2023

Link: https://doi.org/10.1007/..

5

Premature aging disorders: A clinical and genetic compendiu:

Schnabel, Franziska ; Kornak, Uwe ; Wollnik, Bernd
Clinical Genetics. 99 (2020) 1 - p. 3-28 , 2020

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

6

Aplasia cutis congenita in a CDC42‐related developmental ph..:

Schnabel, Franziska ; Kamphausen, Susanne B. ; Funke, Rudolf...
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 850-855 , 2020

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

7

Down syndrome phenotype in a boy with a mosaic microduplica..:

Schnabel, Franziska ; Smogavec, Mateja ; Funke, Rudolf...
Molecular Cytogenetics. 11 (2018) 1 - p. , 2018

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

8

Homozygous loss-of-function variants in FILIP1 cause autoso..:

Schnabel, Franziska ; Schuler, Elisabeth ; Al-Maawali, Almundher...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060356/. , 2023

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

9

Homozygous loss-of-function variants in FILIP1 cause autoso..:

Schnabel, Franziska ; Schuler, Elisabeth ; Al-Maawali, Almundher...
Schnabel , F , Schuler , E , Al-Maawali , A , Chaurasia , A , Syrbe , S , Al-Kindi , A , Bhavani , G S , Shukla , A , Altmüller , J , Nürnberg , P , Banka , S , Girisha , K M , Li , Y , Wollnik , B & Yigit , G 2023 , ' Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly ' , Human Genetics . https://doi.org/10.1007/s00439-023-02528-2. , 2023

Link: https://research.manches..

10

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...

11

Homozygous loss-of-function variants in FILIP1 cause autoso..:

Schnabel, Franziska ; Schuler, Elisabeth ; Al-Maawali, Almundher...
0340-6717. , 2023

Link: https://resolver.sub.uni..

12

Premature aging disorders: A clinical and genetic compendiu:

Schnabel, Franziska ; Kornak, Uwe ; Wollnik, Bernd
EXC 2067: Multiscale Bioimaging. , 2020

Link: https://resolver.sub.uni..

13

Down syndrome phenotype in a boy with a mosaic microduplica..:

Schnabel, Franziska ; Smogavec, Mateja ; Funke, Rudolf...
Institut für Humangenetik. , 2018

Link: https://resolver.sub.uni..

14

Down syndrome phenotype in a boy with a mosaic microduplica..:

Franziska Schnabel ; Mateja Smogavec ; Rudolf Funke...
http://link.springer.com/article/10.1186/s13039-018-0410-4. , 2018

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

15

Capillary-assisted evaporation of water from finned tubes –..:

Seiler, Jan ; Volmer, Rahel ; Krakau, Dennis...
Applied Thermal Engineering. 165 (2020) - p. 114620 , 2020

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