E-LIB Suche - Ergebnisse für: Schmetz, Ariane

1

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

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
Frontiers in Cell and Developmental Biology. 10 (2023) - p. , 2023

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

2

Delineation of the adult phenotype of Coffin–Siris syndrome..:

Schmetz, Ariane ; Lüdecke, Hermann-Josef ; Surowy, Harald...
Human Genetics. 143 (2023) 1 - p. 71-84 , 2023

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

3

Heterozygous rare variants in NR2F2 cause a recognizable mu..:

Ganapathi, Mythily ; Matsuoka, Leticia S. ; March, Michael...
European Journal of Human Genetics. 31 (2023) 10 - p. 1117-1124 , 2023

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

4

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Mu..:

Schmetz, Ariane ; Schaper, Jörg ; Thelen, Simon...
Genes. 14 (2023) 3 - p. 724 , 2023

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

5

Phenotype diversity associated with TP63 mutations:

Schmetz, Ariane ; Xiong, Xing ; Cesarato, Nicole...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 20 (2022) 6 - p. 872-875 , 2022

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

6

Phänotypische Vielfalt bei Varianten im TP63‐Gen:

Schmetz, Ariane ; Xiong, Xing ; Cesarato, Nicole...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 20 (2022) 6 - p. 871-875 , 2022

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

7

Adenoma and colorectal cancer risks in Lynch syndrome, Lync..:

Bucksch, Karolin ; Zachariae, Silke ; Ahadova, Aysel...
International Journal of Cancer. 150 (2021) 1 - p. 56-66 , 2021

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

8

Genetics of craniofacial malformations:

Schmetz, Ariane ; Amiel, Jeanne ; Wieczorek, Dagmar
Seminars in Fetal and Neonatal Medicine. 26 (2021) 6 - p. 101290 , 2021

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

9

Adult syndromology: challenges, opportunities and perspecti..:

Schmetz MD, Ariane ; Ballesta-Martínez, Maria Juliana ; Isidor, Bertrand...
Medizinische Genetik. 36 (2024) 2 - p. 95-102 , 2024

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

10

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels‐Hauguel, Johanna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10801341/. , 2024

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

11

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...

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

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Mu..:

Schmetz, Ariane ; Schaper, Jörg ; Thelen, Simon...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048304/. , 2023

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

14

Phänotypische Vielfalt bei Varianten im TP63 ‐Gen:

Schmetz, Ariane ; Xiong, Xing ; Cesarato, Nicole...
1610-0379. , 2022

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

15

Adenoma and colorectal cancer risks in Lynch syndrome, Lync..:

Bucksch, Karolin ; Zachariae, Silke ; Ahadova, Aysel...
0020-7136. , 2022

Link: https://nbn-resolving.or..