E-LIB Suche - Ergebnisse für: Burrage, Lindsay

1

Inherited Metabolic Disorders:

, In: Care of Adults with Chronic Childhood Conditions,

Kemere, Jordan ; Soler-Alfonso, Claudia ; Burrage, Lindsay - p. 595-603 , 2024

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

2

Effective algorithm to differentiate NBS MCADD cases from f..:

Snyder, Matthew ; Divin, Kristian ; Liu, Ning...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108168 , 2024

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

3

P173: Precision animal modeling and VUS-resolution in a nov..:

Burrage, Lindsay ; Lanza, Denise ; Marcogliese, Paul...
Genetics in Medicine Open. 2 (2024) - p. 101070 , 2024

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

4

High prevalence of hepatic fibrosis in liver tissue from in..:

Burrage, Lindsay ; Ali, Saima ; Nisar, Aisha...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108172 , 2024

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

5

Two versus one newborn screens: Policy considerations for s..:

Chang, Hsiang-Chun ; Hunt, Patricia ; Gofin, Yoel...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108335 , 2024

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

6

Exploring the complexity of systemic sclerosis etiology by ..:

Dai, Hongzheng ; Ketkar, Shamika ; Tan, Taotao...
Human Molecular Genetics. , 2024

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

7

Response to Tofacitinib in an Infant with Aicardi-Goutières..:

Nimri, Jena ; Nguyen, Jessica ; Lalani, Seema...
Clinical Immunology. 250 (2023) - p. 109539 , 2023

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

8

Relationship between longitudinal changes in neuropsycholog..:

Lichter-Konecki, Uta ; Sanz, Jacqueline H. ; Ah Mew, Nicholas...
Pediatric Research. 94 (2023) 6 - p. 2005-2015 , 2023

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

9

P348: De novo missense variants in ZBTB47 cause a neurodeve..:

Ward, Scott ; Burrage, Lindsay ; Rosenfeld, Jill...
Genetics in Medicine Open. 1 (2023) 1 - p. 100376 , 2023

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

10

eP223: Dominant-acting MAP3K20 variants cause split-foot ma..:

Rosenfeld, Jill ; Shealy, Amy ; Eble, Tanya...
Genetics in Medicine. 24 (2022) 3 - p. S138-S139 , 2022

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

11

eP090: Precision medicine modelling for undiagnosed and rar..:

Burrage, Lindsay ; Rosenfeld, Jill ; Yamamoto, Shinya...
Genetics in Medicine. 24 (2022) 3 - p. S59 , 2022

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

12

ASL expression in ALDH1A1+ neurons in the substantia nigra ..:

Lerner, Shaul ; Eilam, Raya ; Adler, Lital...
Human Genetics. 140 (2021) 10 - p. 1471-1485 , 2021

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

13

Long-read sequencing for diagnosis in the Undiagnosed Disea..:

Murdock, David ; Rosenfeld, Jill ; Xia, Fan...
Molecular Genetics and Metabolism. 132 (2021) - p. S253-S254 , 2021

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

14

Anovel de novo intronic variant in ITPR1 causes Gillespie s..:

Keehan, Laura ; Jiang, Ming-Ming ; Li, Xiaohui...
Molecular Genetics and Metabolism. 132 (2021) - p. S86 , 2021

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

15

List of contributors:

, In: Handbook of Clinical Adult Genetics and Genomics,

Abramson, Ruth K. ; Addison, Jeffrey ; Alsadah, Adnan... - p. xv-xix , 2020

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