E-LIB Suche - Ergebnisse für: Ellingwood, Sara S

1

Biochemical and Clinical Aspects of Glycogen Storage Diseas..:

Ellingwood, Sara S ; Cheng, Alan
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050127/. , 2018

Link: http://www.ncbi.nlm.nih...

2

SYT1-associated neurodevelopmental disorder: a case series:

Baker, K. (Kate) ; Gordon, S.L. (Sarah L.) ; Melland, H. (Holly)...
http://repub.eur.nl/pub/113427. , 2018

Link: http://repub.eur.nl/pub/..

3

BET1variants establish impaired vesicular transport as a ca..:

Donkervoort, Sandra ; Krause, Niklas ; Dergai, Mykola...
EMBO Molecular Medicine. 13 (2021) 12 - p. , 2021

Link: https://doi.org/10.15252..

4

SYT1-associated neurodevelopmental disorder: a case series:

Baker, Kate ; Gordon, Sarah L ; Melland, Holly...
Brain. 141 (2018) 9 - p. 2576-2591 , 2018

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

5

TAF1 Variants Are Associated with Dysmorphic Features, Inte..:

O'Rawe, Jason A. ; Wu, Yiyang ; Dörfel, Max J....
The American Journal of Human Genetics. 97 (2015) 6 - p. 922-932 , 2015

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

6

8p23.1 duplication syndrome; common, confirmed, and novel f..:

Barber, John C.K. ; Rosenfeld, Jill A. ; Foulds, Nicola...
American Journal of Medical Genetics Part A. 161 (2013) 3 - p. 487-500 , 2013

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

7

Abrogation of MAP4K4 protein function causes congenital ano..:

Patterson, Victoria ; Ullah, Farid ; Bryant, Laura...
https://www.repository.cam.ac.uk/handle/1810/349629. , 2023

Link: https://www.repository.c..

8

Abrogation of MAP4K4 protein function causes congenital ano..:

Patterson, Victoria ; Ullah, Farid ; Bryant, Laura...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10132768/. , 2023

Link: http://www.ncbi.nlm.nih...

9

BET1 variants establish impaired vesicular transport as a c..:

Donkervoort, Sandra ; Krause, Niklas ; Dergai, Mykola...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8649873/. , 2021

Link: http://www.ncbi.nlm.nih...

10

A DNA repair disorder caused by de novo monoallelic DDB1 va..:

White, Susan M ; Bhoj, Elizabeth ; Nellåker, Christoffer...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059373/. , 2021

Link: http://www.ncbi.nlm.nih...

11

TAF1 Variants Are Associated with Dysmorphic Features, Inte..:

O'Rawe, Jason A ; Wu, Yiyang ; Dörfel, Max J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678794/. , 2015

Link: http://www.ncbi.nlm.nih...

12

TAF1 Variants are associated with dysmorphic features, inte..:

O'Rawe, Jason A ; Wu, Yiyang ; Dörfel, Max J...
ISSN 0002-9297. , 2015

Link: http://repository.urosar..

13

BET1 variants establish impaired vesicular transport as a c..:

Sandra Donkervoort ; Niklas Krause ; Mykola Dergai...
https://doi.org/10.15252/emmm.202013787. , 2021

Link: https://doi.org/10.15252..

14

Integrated Morphoelectric and Transcriptomic Classification..:

Gouwens, Nathan W ; Sorensen, Staci A ; Baftizadeh, Fahimeh...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7781065/. , 2020

Link: http://www.ncbi.nlm.nih...

15

Evaluation of Salivary Tryptase As A Biomarker For Mast Cel..:

Ellingwood, Sara ; Ravikumar, Rajan ; Schuler, Charles...
Journal of Allergy and Clinical Immunology. 151 (2023) 2 - p. AB52 , 2023

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