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Bademci, R
45
results:
Search for persons
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Online (45)
Mediatypes
Articles (Online) (26)
OpenAccess-fulltext (19)
Sorted by: Relevance
Sorted by: Year
?
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
Loss-of-function in RBBP5 results in a syndromic neurodevel..:
Huang, Yue
;
Jay, Kristy L.
;
Huang, Alden Yen-Wen
...
Genetics in Medicine. , 2024
Link:
https://doi.org/10.1016/..
?
4
Cohort expansion and genotype-phenotype analysis of RAB11A-..:
Borroto, Maria C.
;
Patel, Heena
;
Srivastava, Siddharth
...
Pediatric Neurology. , 2024
Link:
https://doi.org/10.1016/..
?
5
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/..
?
6
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/..
?
7
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/..
?
8
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/..
?
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
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/..
?
11
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/..
?
12
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/..
?
13
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/..
?
14
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/..
?
15
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/..
1-15