I agree that this site is using cookies. You can find further informations here.
X
Brigatti, Karlla Welch
32  results:
Search for persons X
?
1

List of contributors:

, In: Genomics of Rare Diseases,
Breman, Amy ; Brigatti, Karlla Welch ; Chahrour, Maria... - p. xiii-xiv , 2021
Link: https://doi.org/10.1016/..
 
?
2

Introduction to concepts of genetics and genomics:

, In: Genomics of Rare Diseases,
Brigatti, Karlla Welch - p. 1-15 , 2021
Link: https://doi.org/10.1016/..
 
?
3

Preemptive dual therapy for children at risk for infantile‐..:

Matesanz, Susan E. ; Brigatti, Karlla W. ; Young, Millie..
Annals of Clinical and Translational Neurology.  , 2024
Link: https://doi.org/10.1002/..
 
?
4

WiTNNess: An international natural history study of infanti..:

Strauss, Kevin A. ; Carson, Vincent J. ; Bolettieri, Emilienne...
Annals of Clinical and Translational Neurology.  10 (2023)  11 - p. 1972-1984 , 2023
Link: https://doi.org/10.1002/..
 
?
5

Pathogenic variants in SLF2 and SMC5 cause segmented chromo..:

Grange, Laura J. ; Reynolds, John J. ; Ullah, Farid...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
?
6

Disease burden and management of Crigler‐Najjar syndrome: R..:

Aronson, Sem J. ; Junge, Norman ; Trabelsi, Mediha...
Liver International.  42 (2022)  7 - p. 1593-1604 , 2022
Link: https://doi.org/10.1111/..
 
?
7

Clinical characterization of familial hypercholesterolemia ..:

Williams, Katie B. ; Horst, Michael ; Young, Millie...
BMC Cardiovascular Disorders.  22 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
?
8

A recurring NFS1 pathogenic variant causes a mitochondrial ..:

Hershkovitz, Tova ; Kurolap, Alina ; Tal, Galit...
Molecular Genetics and Metabolism Reports.  26 (2021)  - p. 100699 , 2021
Link: https://doi.org/10.1016/..
 
?
9

Cortical overgrowth in a preclinical forebrain organoid mod..:

de Jong, Job O. ; Llapashtica, Ceyda ; Genestine, Matthieu...
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
?
10

Nusinersen by subcutaneous intrathecal catheter for symptom..:

Carson, Vincent J. ; Young, Millie ; Brigatti, Karlla W....
Muscle & Nerve.  65 (2021)  1 - p. 51-59 , 2021
Link: https://doi.org/10.1002/..
 
?
11

Crigler‐Najjar Syndrome Type 1: Pathophysiology, Natural Hi..:

Strauss, Kevin A. ; Ahlfors, Charles E. ; Soltys, Kyle...
Hepatology.  71 (2020)  6 - p. 1923-1939 , 2020
Link: https://doi.org/10.1002/..
 
?
12

RSRC1 loss-of-function variants cause mild to moderate auto..:

Maroofian, Reza ; Houlden, Henry ; Puffenberger, Erik...
Brain.  143 (2020)  4 - p. e31-e31 , 2020
Link: https://doi.org/10.1093/..
 
?
13

Branched-chain α-ketoacid dehydrogenase deficiency (maple s..:

Strauss, Kevin A. ; Carson, Vincent J. ; Soltys, Kyle...
Molecular Genetics and Metabolism.  129 (2020)  3 - p. 193-206 , 2020
Link: https://doi.org/10.1016/..
 
?
14

Glutaric acidemia type 1: Treatment and outcome of 168 pati..:

Strauss, Kevin A. ; Williams, Katie B. ; Carson, Vincent J....
Molecular Genetics and Metabolism.  131 (2020)  3 - p. 325-340 , 2020
Link: https://doi.org/10.1016/..
 
?
15

Recessive GM3 synthase deficiency: Natural history, biochem..:

Bowser, Lauren E. ; Young, Millie ; Wenger, Olivia K....
Molecular Genetics and Metabolism.  126 (2019)  4 - p. 475-488 , 2019
Link: https://doi.org/10.1016/..
 
1-15