E-LIB Suche - Ergebnisse für: Milana Trubnykova

1

A Pellino‐2 variant is associated with constitutive NLRP3 i..:

Cristea, Ileana ; Abarca, Hugo ; Christensen Mellgren, Anne E....
FEBS Letters. 597 (2023) 9 - p. 1290-1299 , 2023

2

MLPA followed by target‐NGS to detect mutations in the dyst..:

Guevara‐Fujita, María Luisa ; Huaman‐Dianderas, Francia ; Obispo, Daisy...
Molecular Genetics & Genomic Medicine. 9 (2021) 9 - p. , 2021

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

3

Importancia de la determinación de variantes en el número d..:

Abarca, Hugo ; Trubnykova, Milana ; Chavesta, Félix..
Biomédica. 41 (2021) 2 - p. 282-292 , 2021

Link: https://doi.org/10.7705/..

4

Phenotypic expansion inKIF1A‐related dominant disorders: A ..:

Montenegro‐Garreaud, Ximena ; Hansen, Adam W. ; Khayat, Michael M....
Human Mutation. 41 (2020) 12 - p. 2094-2104 , 2020

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

5

A novel ASPH variant extends the phenotype of Shawaf‐Trabou..:

Abarca Barriga, Hugo H. ; Caballero, Nathaly ; Trubnykova, Milana...
American Journal of Medical Genetics Part A. 176 (2018) 11 - p. 2494-2500 , 2018

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

6

Novel contiguous gene deletion in peruvian girl with Tricho..:

La Serna-Infantes, Jorge ; Pastor, Miguel Chávez ; Trubnykova, Milana...
European Journal of Medical Genetics. 61 (2018) 7 - p. 388-392 , 2018

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

7

Síndrome H: primer caso pediátrico reportado en América Lat..:

Abarca Barriga, Hugo Hernán ; Trubnykova, Milana ; Polar Córdoba, Victoria..
Revista Chilena de Pediatría. 87 (2016) 6 - p. 494-499 , 2016

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

8

Genetic association meta-analysis: a new classification to ..:

Vásquez-Loarte, Tania ; Trubnykova, Milana ; Guio, Heinner
BMC Genetics. 16 (2015) 1 - p. , 2015

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

9

Ocular pterygium—Digital keloid dysplasia:

Abarca, Hugo ; Mellgren, Anne E Christensen ; Trubnykova, Milana...
American Journal of Medical Genetics Part A. 164 (2014) 11 - p. 2901-2907 , 2014

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

10

Management of genetic diseases: Present and future:

Hugo Hernán Abarca Barriga ; Milana Trubnykova ; María del Carmen Castro Mujica
http://revistas.urp.edu.pe/index.php/RFMH/article/view/3626. , 2021

Link: https://doi.org/10.25176..

11

MLPA followed by target‐NGS to detect mutations in the dyst..:

María Luisa Guevara‐Fujita ; Francia Huaman‐Dianderas ; Daisy Obispo...
https://doi.org/10.1002/mgg3.1759. , 2021

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

12

DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS I..:

María Luisa. Guevara-Fujita ; Francia Huaman-Dianderas ; Daisy Obispo...
doi:10.5281/zenodo.4741000. , 2021

Link: https://zenodo.org/recor..

13

Importancia de la determinación de variantes en el número d..:

Hugo Abarca ; Milana Trubnykova ; Félix Chavesta..
https://revistabiomedica.org/index.php/biomedica/article/view/5354. , 2021

Link: https://doi.org/10.7705/..

14

Prevalence of oral manifestations of hypophosphatemic ricke..:

Janet Ofelia Guevara-Canales ; Nathali Cardenas-Zuñiga ; Miguel Chavez-Pastor..
http://www.joralres.com/index.php/JOR/article/view/joralres.2020.079. , 2020

Link: https://doi.org/10.17126..

15

Variantes en el número de copias en trastornos del neurodes..:

Hugo H. Abarca Barriga ; Flor de Milagros Vásquez Sotomayor ; Milana Trubnykova...
https://amp.cmp.org.pe/index.php/AMP/article/view/915. , 2020

Link: https://doi.org/10.35663..