E-LIB Suche - Ergebnisse für: Bademci, R

1

Demonstration of the protective effect of ghrelin in the li..:

Bademci, R ; Erdoğan, MA ; Eroğlu, E...
Human & Experimental Toxicology. 40 (2021) 12 - p. 2178-2187 , 2021

Link: https://doi.org/10.1177/..

2

Acute nontraumatic torticollis in a patient with right lowe..:

Yaylak F ; Zeren S ; Bayhan Z..
10.11604/pamj.2015.21.218.5984. , 2015

Link: https://hdl.handle.net/2..

3

LUSTR: a new customizable tool for calling genome-wide germ..:

Lu, Jinfeng ; Toro, Camilo ; Adams, David R....
BMC Genomics. 25 (2024) 1 - p. , 2024

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

4

Exome and genome sequencing in a heterogeneous population o..:

Pucel, Jenna ; Briere, Lauren C. ; Reuter, Chloe...
Genetics in Medicine. 26 (2024) 6 - p. 101115 , 2024

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

5

Genomics Research with Undiagnosed Children: Ethical Challe..:

Halley, Meghan C. ; Young, Jennifer L. ; Tang, Charis...
The Journal of Pediatrics. 261 (2023) - p. 113537 , 2023

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

6

De novo variants in MRTFB have gain-of-function activity in..:

Andrews, Jonathan C. ; Mok, Jung-Wan ; Kanca, Oguz...
Genetics in Medicine. 25 (2023) 6 - p. 100833 , 2023

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

7

A concurrent dual analysis of genomic data augments diagnos..:

Spillmann, Rebecca C. ; Tan, Queenie K.-G. ; Reuter, Chloe...
Genetics in Medicine. 25 (2023) 4 - p. 100353 , 2023

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

8

Continuing a search for a diagnosis: the impact of adolesce..:

Miller, Ilana M. ; Yashar, Beverly M. ; Acosta, Maria T....
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

9

Participation in a national diagnostic research study: asse..:

Rosenfeld, Lindsay E. ; LeBlanc, Kimberly ; Nagy, Anna...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

10

Biallelic variants in ribonuclease inhibitor (RNH1), an inf..:

Shashi, Vandana ; Schoch, Kelly ; Ganetzky, Rebecca...
Genetics in Medicine. 25 (2023) 9 - p. 100897 , 2023

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

11

The microRNA processorDROSHAis a candidate gene for a sever..:

Barish, Scott ; Senturk, Mumine ; Schoch, Kelly...
Human Molecular Genetics. 31 (2022) 17 - p. 2934-2950 , 2022

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

12

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P. ; Grimsrud, Kristin ; Lanoue, Louise...
Genetics in Medicine. 24 (2022) 7 - p. 1567-1582 , 2022

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

13

Biallelic KITLG variants lead to a distinct spectrum of hyp..:

Vona, B. ; Schwartzbaum, D.A. ; Rodriguez, A.A....
Journal of the European Academy of Dermatology and Venereology. 36 (2022) 9 - p. 1606-1611 , 2022

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

14

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/..

15

Heterozygous loss-of-function variants significantly expand..:

Ravenscroft, Thomas A. ; Phillips, Jennifer B. ; Fieg, Elizabeth...
Genetics in Medicine. 23 (2021) 10 - p. 1889-1900 , 2021

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