E-LIB Suche - Ergebnisse für: Schnur, Rhonda E.

1

Biallelic variants in SLC4A10 encoding a sodium-dependent b..:

Maroofian, Reza ; Zamani, Mina ; Kaiyrzhanov, Rauan...
Genetics in Medicine. 26 (2024) 3 - p. 101034 , 2024

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

2

New kinase‐deficient PAK2 variants associated with Knobloch..:

Schnur, Rhonda E. ; Dvořáček, Lukáš ; Kalsner, Louisa...
Clinical Genetics. , 2024

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

3

De novo variants predicting haploinsufficiency for DIP2C ar..:

Ha, Thoa ; Morgan, Angela ; Bartos, Meghan N....
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

4

De Novo Variants in RAB11B Cause Various Degrees of Global ..:

Ahmad, Natalie ; Fazeli, Walid ; Schließke, Sophia...
Pediatric Neurology. 148 (2023) - p. 164-171 , 2023

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

5

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine l..:

Dang Do, An N. ; Chang, Irene J. ; Jiang, Xutian...
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 326-334 , 2023

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

6

Rare germline heterozygous missense variants in BRCA1-assoc..:

Küry, Sébastien ; Ebstein, Frédéric ; Mollé, Alice...
The American Journal of Human Genetics. 109 (2022) 2 - p. 361-372 , 2022

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

7

Six new cases of CRB2‐related syndrome and a review of clin..:

Adutwum, Michelle ; Hurst, Anna ; Mirzaa, Ghayda...
Clinical Genetics. 103 (2022) 1 - p. 97-102 , 2022

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

8

Biallelic loss-of-function variants in the splicing regulat..:

Calame, Daniel G. ; Bakhtiari, Somayeh ; Logan, Rachel...
Genetics in Medicine. 23 (2021) 12 - p. 2455-2460 , 2021

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

9

UBA2 variants underlie a recognizable syndrome with variabl..:

Schnur, Rhonda E. ; Yousaf, Sairah ; Liu, James...
Genetics in Medicine. 23 (2021) 9 - p. 1624-1635 , 2021

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

10

CDK19-related disorder results from both loss-of-function a..:

Zarate, Yuri A. ; Uehara, Tomoko ; Abe, Kota...
Genetics in Medicine. 23 (2021) 6 - p. 1050-1057 , 2021

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

11

Variants in the degron of AFF3 are associated with intellec..:

Voisin, Norine ; Schnur, Rhonda E. ; Douzgou, Sofia...
The American Journal of Human Genetics. 108 (2021) 5 - p. 857-873 , 2021

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

12

Interference of nuclear mitochondrial DNA segments in mitoc..:

Bai, Renkui ; Cui, Hong ; Devaney, Joseph M....
Genetics in Medicine. 23 (2021) 8 - p. 1514-1521 , 2021

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

13

Haploinsufficiency of SF3B2 causes craniofacial microsomia:

Timberlake, Andrew T. ; Griffin, Casey ; Heike, Carrie L....
Nature Communications. 12 (2021) 1 - p. , 2021

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

14

Heterozygous variants that disturb the transcriptional repr..:

Snijders Blok, Lot ; Vino, Arianna ; den Hoed, Joery...
Genetics in Medicine. 23 (2021) 3 - p. 534-542 , 2021

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

15

Boricua Founder Variant in FRRS1L Causes Epileptic Encephal..:

Abdelmoumen, Imane ; Jimenez, Sandra ; Valencia, Ignacio...
Journal of Child Neurology. 36 (2020) 2 - p. 93-98 , 2020

Link: https://doi.org/10.1177/..