E-LIB Suche - Ergebnisse für: Davis, Erica E

1

Biallelic loss-of-function variants in CACHD1 cause a novel..:

Scala, Marcello ; Khan, Kamal ; Beneteau, Claire...
Genetics in Medicine. 26 (2024) 4 - p. 101057 , 2024

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

2

TNF promoter hypomethylation is associated with mucosal inf..:

Levic, Daniel S. ; Niedzwiecki, Donna ; Kandakatla, Apoorva...
Gastro Hep Advances. , 2024

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

3

Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort..:

Khan, Sheraz ; Focșa, Ina Ofelia ; Budișteanu, Magdalena...
American Journal of Medical Genetics Part A. 191 (2023) 9 - p. 2376-2391 , 2023

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

4

Association of deep phenotyping with diagnostic yield of pr..:

Drexler, Kathleen A. ; Talati, Asha N. ; Gilmore, Kelly L....
Genetics in Medicine. 25 (2023) 10 - p. 100915 , 2023

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

5

Diagnosis of TBC1D32‐associated conditions: Expanding the p..:

Harris, Sarah C. ; Chong, Karen ; Chitayat, David...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1282-1292 , 2023

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

6

A cross-disorder dosage sensitivity map of the human genome:

Collins, Ryan L. ; Glessner, Joseph T. ; Porcu, Eleonora...
Cell. 185 (2022) 16 - p. 3041-3055.e25 , 2022

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

7

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in G..:

Lippincott, Margaret F. ; Xu, Wanxue ; Smith, Abigail A....
Genetics in Medicine. 24 (2022) 12 - p. 2501-2515 , 2022

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

8

Testing for rare genetic causes of obesity: findings and ex..:

Roberts, Karyn J. ; Ariza, Adolfo J. ; Selvaraj, Kavitha...
International Journal of Obesity. 46 (2022) 8 - p. 1493-1501 , 2022

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

9

1088 Prenatal diagnosis of TBC1D32-associated disease by ex..:

Harris, Sarah C. ; Gilmore, Kelly L. ; Davis, Erica E....
American Journal of Obstetrics and Gynecology. 224 (2021) 2 - p. S671 , 2021

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

10

A recessive variant in TFAM causes mtDNA depletion associat..:

Ullah, Farid ; Rauf, Waqar ; Khan, Kamal...
Human Genetics. 140 (2021) 12 - p. 1733-1751 , 2021

Link: https://doi.org/10.1007/..

11

A recurrent rare intronic variant in CAPN3 alters mRNA spli..:

Khan, Kamal ; Mehmood, Sarmad ; Liu, Chunyu...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 498-508 , 2021

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

12

HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Mode..:

de Oliveira, Vanessa Cristina ; Santos Roballo, Kelly Cristine ; Mariano Junior, Clésio Gomes...
Life. 12 (2021) 1 - p. 22 , 2021

Link: https://doi.org/10.3390/..

13

Acoustofluidic rotational tweezing enables high-speed conta..:

Chen, Chuyi ; Gu, Yuyang ; Philippe, Julien...
Nature Communications. 12 (2021) 1 - p. , 2021

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

14

Loss of CBY1 results in a ciliopathy characterized by featu..:

Epting, Daniel ; Senaratne, Lokuliyange D. S. ; Ott, Elisabeth...
Human Mutation. 41 (2020) 12 - p. 2179-2194 , 2020

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

15

A BBS1 SVA F retrotransposon insertion is a frequent cause ..:

Delvallée, Clarisse ; Nicaise, Samuel ; Antin, Manuela...
Clinical Genetics. 99 (2020) 2 - p. 318-324 , 2020

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