E-LIB Suche - Ergebnisse für: Muss, Candace

1

HNRNPC haploinsufficiency affects alternative splicing of i..:

Niggl, Eva ; Bouman, Arjan ; Briere, Lauren C....
The American Journal of Human Genetics. 110 (2023) 8 - p. 1414-1435 , 2023

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

2

TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Descript..:

Albokhari, Daniah ; Pritchard, Amanda Barone ; Beil, Adelyn...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1261-1272 , 2023

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

3

P343: Distinctive facial features, cleft palate, talipes eq..:

Wadman, Erin ; Fernandes, Erica ; Powell-Hamilton, Nina...
Genetics in Medicine Open. 1 (2023) 1 - p. 100371 , 2023

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

4

A novel syndrome associated with prenatal fentanyl exposure:

Wadman, Erin ; Fernandes, Erica ; Muss, Candace...
Genetics in Medicine Open. 1 (2023) 1 - p. 100834 , 2023

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

5

A retrospective review of multiple findings in diagnostic e..:

Smith, Erica D. ; Blanco, Kirsten ; Sajan, Samin A....
Genetics in Medicine. 21 (2019) 10 - p. 2199-2207 , 2019

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

6

A survey of seizures and current treatments in 15q duplicat..:

Conant, Kerry D. ; Finucane, Brenda ; Cleary, Nicole...
Epilepsia. 55 (2014) 3 - p. 396-402 , 2014

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

7

Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, Sayaka ; Pérez-Jurado, Luis A ; Palomares, María...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939054/. , 2022

Link: http://www.ncbi.nlm.nih...

8

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A ; Wang, Tianyun ; Hoekzema, Kendra...
10.1186/s13073-021-00870-6. , 2021

Link: https://hdl.handle.net/1..

9

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A ; Wang, Tianyun ; Hoekzema, Kendra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056596/. , 2021

Link: http://www.ncbi.nlm.nih...

10

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A ; Wang, Tianyun ; Hoekzema, Kendra...
qt9ff2t46d. , 2021

Link: https://escholarship.org..

11

A novel syndrome associated with prenatal fentanyl exposure:

Erin Wadman ; Erica Fernandes ; Candace Muss...
http://www.sciencedirect.com/science/article/pii/S2949774423008439. , 2023

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

12

P343: Distinctive facial features, cleft palate, talipes eq..:

Erin Wadman ; Erica Fernandes ; Nina Powell-Hamilton...
http://www.sciencedirect.com/science/article/pii/S2949774423003710. , 2023

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

13

Rare deleterious mutations of HNRNP genes result in shared ..:

Madelyn A. Gillentine ; Tianyun Wang ; Kendra Hoekzema...
https://doi.org/10.1186/s13073-021-00870-6. , 2021

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

14

Additional file 2 of Rare deleterious mutations of HNRNP ge..:

Madelyn A. Gillentine (10669950) ; Tianyun Wang (2884355) ; Kendra Hoekzema (3312819)...
https://figshare.com/articles/journal_contribution/Additional_file_2_of_Rare_deleterious_mutations_of_HNRNP_genes_result_in_shared_neurodevelopmental_disorders/14450784. , 2021

Link: https://doi.org/10.6084/..

15

Additional file 3 of Rare deleterious mutations of HNRNP ge..:

Madelyn A. Gillentine (10669950) ; Tianyun Wang (2884355) ; Kendra Hoekzema (3312819)...
https://figshare.com/articles/journal_contribution/Additional_file_3_of_Rare_deleterious_mutations_of_HNRNP_genes_result_in_shared_neurodevelopmental_disorders/14450793. , 2021

Link: https://doi.org/10.6084/..