E-LIB Suche - Ergebnisse für: Millan, Francisca

1

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
https://discovery.ucl.ac.uk/id/eprint/10165041/1/Houlden_awad039.pdf. , 2023

Link: https://discovery.ucl.ac..

2

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
https://boris.unibe.ch/178597/. , 2023

Link: https://boris.unibe.ch/1..

3

De novo coding variants in the AGO1 gene cause a neurodevel..:

SCHALK, Audrey ; COUSIN, Margot A ; DSOUZA, Nikita R...
https://oskar-bordeaux.fr/handle/20.500.12278/184714. , 2023

Link: https://oskar-bordeaux.f..

4

Exome Sequencing and the Identification of New Genes and Sh..:

Akula, Shyam K ; Chen, Allen Y ; Neil, Jennifer E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366952/. , 2023

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

5

Multiomic analyses implicate a neurodevelopmental program i..:

Kundishora, Adam J ; Allington, Garrett ; McGee, Stephen...
https://discovery.ucl.ac.uk/id/eprint/10166692/1/147973_0_art_file_1133662_rcbb0h.pdf. , 2023

Link: https://discovery.ucl.ac..

6

Heterozygous variants in MYH10 associated with neurodevelop..:

Holtz, Alexander ; VanCoillie, Rachel ; Vansickle, Elizabeth...
qt0fq226c4. , 2022

Link: https://escholarship.org..

7

Germline variants in tumor suppressor FBXW7 lead to impaire..:

Stephenson, Sarah E.M ; Costain, Gregory ; Blok, Laura E.R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069070/. , 2022

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

8

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia i..:

Rajan, Deepa S ; Kour, Sukhleen ; Fortuna, Tyler R...
Rajan, Deepa S. Kour, Sukhleen Fortuna, Tyler R. Cousin, Margot A. Barnett, Sarah S. Niu, Zhiyv Babovic-Vuksanovic, Dusica Klee, Eric W. Kirmse, Brian Innes, Micheil Rydning, Siri Lynne Selmer, Kaja Kristine Vigeland, Magnus Dehli ERICHSEN, ANNE KJERSTI Nemeth, Andrea H. Millan, Francisca DeVile, Catherine Fawcett, Katherine Legendre, Adrien Sims, David Schnekenberg, Ricardo Parolin Burglen, Lydie Mercier, Sandra Bakhtiari, Somayeh Francisco-Velilla, Rosario Embarc-Buh, Azman Martinez-Salas, Encarnacion Wigby, Kristen Lenberg, Jerica Friedman, Jennifer R. Kruer, Michael C. Pandey, Udai Bhan . Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Frontiers in Cell and Developmental Biology. 2022, 10:783762, 1-14. , 2022

Link: http://hdl.handle.net/10..

9

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia i..:

Rajan, Deepa S ; Kour, Sukhleen ; Fortuna, Tyler R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8918504/. , 2022

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

10

Highlighting the Dystonic Phenotype Related to GNAO1:

Wirth, Thomas ; Garone, Giacomo ; Kurian, Manju A...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mds.29074. , 2022

Link: https://hal-amu.archives..

11

Highlighting the Dystonic Phenotype Related to GNAO1:

Wirth, Thomas ; Garone, Giacomo ; Kurian, Manju A...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mds.29074. , 2022

Link: https://amu.hal.science/..

12

Highlighting the Dystonic Phenotype Related to GNAO1:

Wirth, Thomas ; Garone, Giacomo ; Kurian, Manju A...
https://discovery.ucl.ac.uk/id/eprint/10150962/1/Kurian_Highlighting%20the%20Dystonic%20Phenotype%20Related%20to%20GNAO1_AOP.pdf. , 2022

Link: https://discovery.ucl.ac..

13

De novo coding variants in the AGO1 gene cause a neurodevel..:

Schalk, Audrey ; Cousin, Margot A ; Dsouza, Nikita R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9241146/. , 2022

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

14

Heterozygous variants in MYH10 associated with neurodevelop..:

Holtz, Alexander M ; Vancoil, Rachel ; Vansickle, Elizabeth A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10765599/. , 2022

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

15

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...