E-LIB Suche - Ergebnisse für: Carmichael, Jenny

1

PSMC5 insufficiency and P320R mutation impair proteasome fu..:

Yu, Zhong-Qiu ; Carmichael, Jenny ; Collins, Galen A...
Human Molecular Genetics. , 2024

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

2

POU3F3‐related disorder: Defining the phenotype and expandi..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
Clinical Genetics. 104 (2023) 2 - p. 186-197 , 2023

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

3

Expanding the phenotypic spectrum of Chromosome 16p13.11 mi..:

Hamad, Asma ; Sherlaw-Sturrock, Charlotte A. ; Glover, Kate...
European Journal of Medical Genetics. 66 (2023) 4 - p. 104714 , 2023

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

4

Gain and loss of TASK3 channel function and its regulation ..:

Cousin, Margot A. ; Veale, Emma L. ; Dsouza, Nikita R....
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

5

Molecular diagnoses in the congenital malformations caused ..:

Best, Sunayna ; Lord, Jenny ; Roche, Matthew...
Acta Ophthalmologica. 100 (2022) S267 - p. , 2022

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

6

Genetic and chemotherapeutic influences on germline hypermu..:

Kaplanis, Joanna ; Ide, Benjamin ; Sanghvi, Rashesh...
Nature. 605 (2022) 7910 - p. 503-508 , 2022

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

7

Molecular diagnoses in the congenital malformations caused ..:

Best, Sunayna ; Lord, Jenny ; Roche, Matthew...
Journal of Medical Genetics. 59 (2021) 8 - p. 737-747 , 2021

Link: https://doi.org/10.1136/..

8

Further delineation of the clinical spectrum of White–Sutto..:

Murch, Oliver ; Jain, Vani ; Benneche, Andreas...
European Journal of Human Genetics. 30 (2021) 1 - p. 95-100 , 2021

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

9

RERE deficiency contributes to the development of orofacial..:

Kim, Bum Jun ; Zaveri, Hitisha P ; Kundert, Peter N...
Human Molecular Genetics. 30 (2021) 7 - p. 595-602 , 2021

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

10

Delineation of dominant and recessive forms of LZTR1‐associ..:

Pagnamenta, Alistair T. ; Kaisaki, Pamela J. ; Bennett, Fenella...
Clinical Genetics. 95 (2019) 6 - p. 693-703 , 2019

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

11

Diagnosis of lethal or prenatal‐onset autosomal recessive d..:

Stals, Karen L. ; Wakeling, Matthew ; Baptista, Júlia...
Prenatal Diagnosis. 38 (2017) 1 - p. 33-43 , 2017

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

12

Site-Specific Conjugation of Monodispersed DOTA-PEGn to a T..:

Li, Lin ; Crow, Desiree ; Turatti, Fabio...
Bioconjugate Chemistry. 22 (2011) 4 - p. 709-716 , 2011

Link: https://doi.org/10.1021/..

13

A potential role for the clathrin adaptor GGA in Drosophila..:

Hirst, Jennifer ; Carmichael, Jenny
BMC Cell Biology. 12 (2011) 1 - p. , 2011

Link: https://doi.org/10.1186/..

14

Correction to "Site-Specific Conjugation of Monodispersed D..:

Li, Lin ; Crow, Desiree ; Turatti, Fabio...
Bioconjugate Chemistry. 22 (2011) 6 - p. 1256-1256 , 2011

Link: https://doi.org/10.1021/..

15

Genetic defects of human brain development:

Carmichael, Jenny ; Woods, Christopher Geoffrey
Current Neurology and Neuroscience Reports. 6 (2006) 5 - p. 437-446 , 2006

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