E-LIB Suche - Ergebnisse für: Katharina Schoner

1

Tracheal agenesis versus tracheal atresia: anatomical condi..:

Pfeifer, Mateja ; Rehder, Helga ; Gerykova Bujalkova, Maria...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

2

Brain malformations in diprosopia observed in clinical case..:

Rehder, Helga ; Kircher, Susanne G. ; Schoner, Katharina...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

3

Lethal osteogenesis imperfecta type XX caused by compound h..:

Stürznickel, Julian ; Jaehn-Rickert, Katharina ; Zustin, Jozef...
Bone Reports. 14 (2021) - p. 100851 , 2021

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

4

Prenatal phenotype of PNKP-related primary microcephaly ass..:

Neuser, Sonja ; Krey, Ilona ; Schwan, Annemarie...
European Journal of Human Genetics. 30 (2021) 1 - p. 101-110 , 2021

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

5

The genomic and clinical landscape of fetal akinesia:

Pergande, Matthias ; Motameny, Susanne ; Özdemir, Özkan...
Genetics in Medicine. 22 (2020) 3 - p. 511-523 , 2020

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

6

Compound Heterozygous Frameshift Mutations in MESD Cause a ..:

Stürznickel, Julian ; Jähn-Rickert, Katharina ; Zustin, Jozef...
Journal of Bone and Mineral Research. 36 (2020) 6 - p. 1077-1087 , 2020

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

7

Correction: The genomic and clinical landscape of fetal aki..:

Pergande, Matthias ; Motameny, Susanne ; Özdemir, Özkan...
Genetics in Medicine. 22 (2020) 8 - p. 1426-1428 , 2020

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

8

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special ..:

Schoner, Katharina ; Witsch‐Baumgartner, Martina ; Behunova, Jana...
Birth Defects Research. 112 (2019) 2 - p. 175-185 , 2019

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

9

Hypomorphic mutations of TRIP11 cause odontochondrodysplasi:

Wehrle, Anika ; Witkos, Tomasz M. ; Unger, Sheila...
JCI Insight. 4 (2019) 3 - p. , 2019

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

10

Piepkorn type of osteochondrodysplasia: Defining the severe..:

Rehder, Helga ; Laccone, Franco ; Kircher, Susanne G....
American Journal of Medical Genetics Part A. 176 (2018) 7 - p. 1559-1568 , 2018

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

11

Mutations in TGDS associated with additional malformations ..:

Schoner, Katharina ; Bald, Rainer ; Horn, Denise...
American Journal of Medical Genetics Part A. 173 (2017) 6 - p. 1694-1697 , 2017

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

12

Actin isoform expression patterns in adult extracardiac and..:

Westhoff, Christina C. ; Schoner, Katharina ; Hartmann, Sylvia..
Virchows Archiv. 470 (2017) 3 - p. 285-290 , 2017

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

13

Recurrent Johanson-Blizzard Syndrome in a Triplet Pregnancy..:

Schoner, Katharina ; Fritz, Barbara ; Huelskamp, Georg...
Pediatric and Developmental Pathology. 15 (2012) 1 - p. 50-57 , 2012

Link: https://doi.org/10.2350/..

14

Double-Outlet Left Ventricle in Association With Heterotaxy..:

Schoner, Katharina ; Enzensberger, Christian ; Vogel, Melanie...
Journal of Ultrasound in Medicine. 31 (2012) 6 - p. 965-968 , 2012

Link: https://doi.org/10.7863/..

15

Klinefelter twins presenting with discordant aneuploidies, ..:

Rehder, Helga ; Schoner, Katharina ; Kluge, Britta...
Prenatal Diagnosis. 32 (2012) 2 - p. 173-179 , 2012

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