E-LIB Suche - Ergebnisse für: King, Mary-Claire

1

An evolutionary perspective on complex neuropsychiatric dis..:

McClellan, Jon M. ; Zoghbi, Anthony W. ; Buxbaum, Joseph D....
Neuron. 112 (2024) 1 - p. 7-24 , 2024

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

2

426. Functional Characterization of De Novo Damaging Mutati..:

Sunshine, Anna ; Gulsuner, Suleyman ; Walsh, Tom..
Biological Psychiatry. 95 (2024) 10 - p. S274 , 2024

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

3

Behavioral characterization of the cochlear amplifier lesio..:

Benoit, Charlotte ; Carlson, Ryan J. ; King, Mary-Claire..
Hearing Research. 439 (2023) - p. 108898 , 2023

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

4

A paradoxical genotype-phenotype relationship: Low level of..:

Aburayyan, Amal ; Carlson, Ryan J ; Rabie, Grace N...
Human Molecular Genetics. 32 (2023) 14 - p. 2265-2268 , 2023

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

5

439. Functional Characterization of Damaging Mutations in P..:

Sunshine, Anna ; Gulsuner, Suleyman ; Walsh, Tom..
Biological Psychiatry. 93 (2023) 9 - p. S272 , 2023

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

6

Clinically Complex LRBA Deficiency Due to a Founder Allele ..:

Freund, Tal ; Baxter, Sarah K. ; Walsh, Tom...
Journal of Clinical Immunology. 43 (2022) 1 - p. 151-164 , 2022

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

7

Mutational spectrum of breast cancer susceptibility genes a..:

Felix, Gabriela E. S. ; Guindalini, Rodrigo Santa Cruz ; Zheng, Yonglan...
Breast Cancer Research and Treatment. 193 (2022) 2 - p. 485-494 , 2022

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

8

P478. Functional Characterization of Rare and Protein-Damag..:

Sunshine, Anna ; Gulsuner, Suleyman ; Walsh, Tom..
Biological Psychiatry. 91 (2022) 9 - p. S282 , 2022

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

9

Molecular diagnosis of childhood immune dysregulation, poly..:

Baxter, Sarah K. ; Walsh, Tom ; Casadei, Silvia...
Journal of Allergy and Clinical Immunology. 149 (2022) 1 - p. 327-339 , 2022

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

10

Inherited predisposition to breast cancer in the Carolina B..:

Walsh, Tom ; Gulsuner, Suleyman ; Lee, Ming K....
npj Breast Cancer. 7 (2021) 1 - p. , 2021

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

11

Cisplatin +/− rucaparib after preoperative chemotherapy in ..:

Kalra, Maitri ; Tong, Yan ; Jones, David R....
npj Breast Cancer. 7 (2021) 1 - p. , 2021

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

12

A tipping point in neuropsychiatric genetics:

McClellan, Jon M. ; King, Mary-Claire
Neuron. 109 (2021) 9 - p. 1411-1413 , 2021

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

13

NKX2-2 Mutation Causes Congenital Diabetes and Infantile Ob..:

Auerbach, Adi ; Cohen, Amitay ; Ofek Shlomai, Noa...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 11 - p. 3486-3495 , 2020

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

14

Genomic analysis of inherited hearing loss in the Palestini..:

Abu Rayyan, Amal ; Kamal, Lara ; Casadei, Silvia...
Proceedings of the National Academy of Sciences. 117 (2020) 33 - p. 20070-20076 , 2020

Link: https://doi.org/10.1073/..

15

Telomere biology disorder prevalence and phenotypes in adul..:

Feurstein, Simone ; Adegunsoye, Ayodeji ; Mojsilovic, Danijela...
Blood Advances. 4 (2020) 19 - p. 4873-4886 , 2020

Link: https://doi.org/10.1182/..