E-LIB Suche - Ergebnisse für: Balci, Tugce B.

1

From Alpha-Thalassemia Trait to NPRL3-Related Epilepsy: A G..:

Nabavi Nouri, Maryam ; Alandijani, Lama ; van Engelen, Kalene...
Genes. 15 (2024) 7 - p. 836 , 2024

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

2

Evaluation of the diagnostic accuracy of exome sequencing a..:

Hartley, Taila ; Marshall, Deborah ; Acker, Meryl...
Genetics in Medicine. 26 (2024) 2 - p. 101012 , 2024

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

3

Broadening the phenotypic and molecular spectrum of FINCA s..:

Sczakiel, Henrike L. ; Zhao, Max ; Wollert-Wulf, Brigitte...
European Journal of Human Genetics. 31 (2023) 8 - p. 905-917 , 2023

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

4

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical a..:

Wojcik, Monica H. ; Srivastava, Siddharth ; Agrawal, Pankaj B....
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1900-1910 , 2023

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

5

Clinical epigenomics: genome-wide DNA methylation analysis ..:

Sadikovic, Bekim ; Levy, Michael A. ; Kerkhof, Jennifer...
Genetics in Medicine. 23 (2021) 6 - p. 1065-1074 , 2021

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

6

Correction: Clinical epigenomics: genome-wide DNA methylati..:

Sadikovic, Bekim ; Levy, Michael A. ; Kerkhof, Jennifer...
Genetics in Medicine. 23 (2021) 11 - p. 2228 , 2021

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

7

Novel findings and expansion of phenotype in a mosaic RASop..:

Chang, Caitlin A. ; Perrier, Renee ; Kurek, Kyle C....
American Journal of Medical Genetics Part A. 185 (2021) 9 - p. 2829-2845 , 2021

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

8

Correction: Phenotate: crowdsourcing phenotype annotations ..:

Chang, Willie H. ; Mashouri, Pouria ; Lozano, Alexander X....
Genetics in Medicine. 22 (2020) 8 - p. 1427 , 2020

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

9

Phenotate: crowdsourcing phenotype annotations as exercises..:

Chang, Willie H. ; Mashouri, Pouria ; Lozano, Alexander X....
Genetics in Medicine. 22 (2020) 8 - p. 1391-1400 , 2020

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

10

Tatton‐Brown‐Rahman syndrome: Six individuals with novel fe..:

Balci, Tugce B. ; Strong, Alana ; Kalish, Jennifer M....
American Journal of Medical Genetics Part A. 182 (2020) 4 - p. 673-680 , 2020

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

11

Genetic Testing in Children with Epilepsy: Report of a Sing..:

Lee, So ; Karp, Natalya ; Zapata-Aldana, Eugenio...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 48 (2020) 2 - p. 233-244 , 2020

Link: https://doi.org/10.1017/..

12

Genotype-phenotype correlations in individuals with pathoge..:

Jordan, Valerie K. ; Fregeau, Brieana ; Ge, Xiaoyan...
Human Mutation. 39 (2018) 5 - p. 666-675 , 2018

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

13

The unsolved rare genetic disease atlas? An analysis of the..:

Hartley, Taila ; Balcı, Tuğçe B. ; Rojas, Samantha K....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178 (2018) 4 - p. 458-463 , 2018

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

14

Broad spectrum of neuropsychiatric phenotypes associated wi..:

Balci, Tugce B. ; Davila, Jorge ; Lewis, Denice...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177 (2017) 1 - p. 101-109 , 2017

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

15

Detection of α-Thalassemia by Using Multiplex Ligation-Depe..:

Yuregir, Ozge Ozalp ; Ayaz, Akif ; Yalcintepe, Sinem...
Indian Journal of Hematology and Blood Transfusion. 32 (2015) 4 - p. 454-459 , 2015

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