E-LIB Suche - Ergebnisse für: Gordon, Christopher T.

1

TREX tetramer disruption alters RNA processing necessary fo..:

Werren, Elizabeth A. ; LaForce, Geneva R. ; Srivastava, Anshika...
Nature Communications. 15 (2024) 1 - p. , 2024

2

Bi-allelic loss-of-function variants in WBP4, encoding a sp..:

Engal, Eden ; Oja, Kaisa Teele ; Maroofian, Reza...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2112-2119 , 2023

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

3

Mandibulofacial dysostosis with alopecia results from ETAR ..:

Kurihara, Yukiko ; Ekimoto, Toru ; Gordon, Christopher T....
Journal of Clinical Investigation. 133 (2023) 4 - p. , 2023

Link: https://doi.org/10.1172/..

4

De novo missense variants in the E3 ubiquitin ligase adapto..:

Sleyp, Yoeri ; Valenzuela, Irene ; Accogli, Andrea...
Genetics in Medicine. 24 (2022) 12 - p. 2464-2474 , 2022

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

5

Broadening the phenotypic spectrum ofEVEN‐PLUSsyndrome thro..:

Pacio‐Miguez, Marta ; Parrón‐Pajares, Manuel ; Gordon, Christopher T....
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2819-2824 , 2022

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

6

Biallelic alterations in PLXND1 cause common arterial trunk..:

Guimier, Anne ; de Pontual, Loïc ; Braddock, Stephen R...
Human Molecular Genetics. 32 (2022) 3 - p. 353-356 , 2022

Link: https://doi.org/10.1093/..

7

Correspondence on "De novo variants in MED12 cause X-linked..:

Riccardi, Florence ; Astier, Alexandre ; Grisval, Margot...
Genetics in Medicine. 23 (2021) 10 - p. 2003-2004 , 2021

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

8

A novel intronic variant in PIGB in Acrofrontofacionasal dy..:

Palagano, Eleonora ; Gordon, Christopher T. ; Uva, Paolo...
Bone. 153 (2021) - p. 116152 , 2021

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

9

Impaired eIF5A function causes a Mendelian disorder that is..:

Faundes, Víctor ; Jennings, Martin D. ; Crilly, Siobhan...
Nature Communications. 12 (2021) 1 - p. , 2021

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

10

Reply: MN1 gene loss-of-function mutation causes cleft pala..:

Vegas, Nancy ; Low, Karen ; Mak, Christopher C Y...
Brain. 144 (2020) 2 - p. e19-e19 , 2020

Link: https://doi.org/10.1093/..

11

EFTUD2missense variants disrupt protein function and splici..:

Thomas, Huw B. ; Wood, Katherine A. ; Buczek, Weronika A....
Human Mutation. 41 (2020) 8 - p. 1372-1382 , 2020

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

12

SMCHD1 is involved inde novomethylation of theDUX4-encoding..:

Dion, Camille ; Roche, Stéphane ; Laberthonnière, Camille...
Nucleic Acids Research. 47 (2019) 6 - p. 2822-2839 , 2019

Link: https://doi.org/10.1093/..

13

A novel de novo PDGFRB variant in a child with severe cereb..:

Guimier, Anne ; Gordon, Christopher T. ; Hully, Marie...
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1304-1309 , 2019

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

14

Novel de novo ZBTB20 mutations in three cases with Primrose..:

Alby, Caroline ; Boutaud, Lucile ; Bessières, Bettina...
American Journal of Medical Genetics Part A. 176 (2018) 5 - p. 1091-1098 , 2018

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

15

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypop..:

Li, Dong ; Gordon, Christopher T ; Oufadem, Myriam...
The Journal of Clinical Endocrinology & Metabolism. 103 (2018) 11 - p. 4023-4032 , 2018

Link: https://doi.org/10.1210/..