E-LIB Suche - Ergebnisse für: Bartsch, Oliver

1

Expanding the spectrum of phenotypes for MPDZ: Report of fo..:

Rad, Aboulfazl ; Bartsch, Oliver ; Bakhtiari, Somayeh...
Clinical Genetics. , 2024

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

2

De novo and inherited monoallelic variants in TUBA4A cause ..:

Benkirane, Mehdi ; Bonhomme, Marion ; Morsy, Heba...
Brain. , 2024

Link: https://doi.org/10.1093/..

3

Diagnosis and management in Rubinstein-Taybi syndrome: firs..:

Lacombe, Didier ; Bloch-Zupan, Agnès ; Bredrup, Cecilie...
Journal of Medical Genetics. 61 (2024) 6 - p. 503-519 , 2024

Link: https://doi.org/10.1136/..

4

Case Report: Targeting of individual somatic tumor mutation..:

Zelba, Henning ; Rabsteyn, Armin ; Bartsch, Oliver...
Frontiers in Immunology. 14 (2023) - p. , 2023

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

5

FGFR1 variants contributed to families with tooth agenesis:

Yao, Siyue ; Zhou, Xi ; Gu, Min...
Human Genomics. 17 (2023) 1 - p. , 2023

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

6

The natural history of adults with Rubinstein-Taybi syndrom..:

Douzgou, Sofia ; Dell'Oro, Janet ; Fonseca, Cristina Rodriguez...
European Journal of Human Genetics. , 2022

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

7

Adjuvant Treatment for Breast Cancer Patients Using Individ..:

Zelba, Henning ; McQueeney, Alex ; Rabsteyn, Armin...
Vaccines. 10 (2022) 11 - p. 1882 , 2022

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

8

Acral lamellar ichthyosis with amino acid substitution in t..:

Frommherz, Leonie ; Komlosi, Katalin ; Hewel, Charlotte...
Journal of the European Academy of Dermatology and Venereology. 37 (2022) 4 - p. 817-822 , 2022

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

9

Further characterization of Borjeson‐Forssman‐Lehmann syndr..:

Gerber, Céline B. ; Fliedner, Anna ; Bartsch, Oliver...
Clinical Genetics. 102 (2022) 3 - p. 182-190 , 2022

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

10

First observation of secondary childhood glaucoma in Coffin..:

Diel, Heidi ; Ding, Can ; Grehn, Franz...
BMC Ophthalmology. 21 (2021) 1 - p. , 2021

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

11

Correction to: First observation of secondary childhood gla..:

Diel, Heidi ; Ding, Can ; Grehn, Franz...
BMC Ophthalmology. 21 (2021) 1 - p. , 2021

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

12

Use of plasma ctDNA as a potential biomarker for longitudin..:

Blumendeller, Carolin ; Boehme, Julius ; Frick, Maximilian...
Journal for ImmunoTherapy of Cancer. 9 (2021) 1 - p. e001406 , 2021

Link: https://doi.org/10.1136/..

13

Variable pulmonary manifestations in Chitayat syndrome: Six..:

Suter, Aude‐Annick ; Santos‐Simarro, Fernando ; Toerring, Pernille Mathiesen...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2068-2076 , 2020

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

14

A female with X‐linked Nephrogenic diabetes insipidus in a ..:

Ding, Can ; Beetz, Rolf ; Rittner, Gabriele.
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 1032-1040 , 2020

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

15

Heterotopic ossifications and Charcot joints: Congenital in..:

Gucev, Zoran ; Tasic, Velibor ; Bogevska, Ivona...
European Journal of Medical Genetics. 63 (2020) 1 - p. 103613 , 2020

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