E-LIB Suche - Ergebnisse für: Abbott, Mary-Alice

1

Real-world experience of switching treatments from alglucos..:

Kishnani, Priya S. ; Abbott, Mary-Alice ; Toscano, Antonio...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107917 , 2024

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

2

Characteristics of patients who have switched from alglucos..:

Schoser, Benedikt ; Abbott, Mary-Alice ; Toscano, Antonio...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107310 , 2023

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

3

Case report: MELAS and concomitant presumed antiphospholipi..:

Nouduri, Sirisha ; Padmanabhan, Rajiv ; Hicks, Richard...
Frontiers in Neurology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

4

Impaired glucose-1,6-biphosphate production due to bi-allel..:

Morava, Eva ; Schatz, Ulrich A. ; Torring, Pernille M....
The American Journal of Human Genetics. 108 (2021) 6 - p. 1151-1160 , 2021

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

5

Massachusetts' Findings from Statewide Newborn Screening fo..:

Hale, Jaime E. ; Darras, Basil T. ; Swoboda, Kathryn J....
International Journal of Neonatal Screening. 7 (2021) 2 - p. 26 , 2021

Link: https://doi.org/10.3390/..

6

EIF3F-related neurodevelopmental disorder: refining the phe..:

UCLA California Center for Rare Disease ; Hüffmeier, Ulrike ; Kraus, Cornelia...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

7

Characteristics of Pompe disease patients with and without ..:

Abbott, Mary-Alice ; Mongini, Tiziana Enrica ; Schoser, Benedikt...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S16 , 2020

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

8

Twin-to-twin transmission of transient abnormal myelopoiesi..:

Roseman, Alexander S. ; Blackburn, Patrick R. ; Bakshi, Shubham...
Cancer Genetics. 244 (2020) - p. 62-64 , 2020

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

9

The genomic landscape of balanced cytogenetic abnormalities..:

Redin, Claire ; Brand, Harrison ; Collins, Ryan L...
Nature Genetics. 49 (2016) 1 - p. 36-45 , 2016

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

10

Atypical immunologic response in a patient with CRIM-negati..:

Abbott, Mary-Alice ; Prater, Sean N. ; Banugaria, Suhrad G....
Molecular Genetics and Metabolism. 104 (2011) 4 - p. 583-586 , 2011

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

11

Redefined genomic architecture in 15q24 directed by patient..:

El-Hattab, Ayman W. ; Smolarek, Teresa A. ; Walker, Martha E....
Human Genetics. 126 (2009) 4 - p. 589-602 , 2009

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

12

CPEB-Mediated Cytoplasmic Polyadenylation and the Regulatio..:

Wu, Lin ; Wells, David ; Tay, Joyce...
Neuron. 21 (1998) 5 - p. 1129-1139 , 1998

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

13

Sequence variants and genotypes among 898 patients with Pom..:

Kishnani, Priya S. ; Abbott, Mary Alice ; Chien, Yin-Hsiu...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S75 , 2017

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

14

Massachusetts' Findings from Statewide Newborn Screening fo..:

Hale, Jaime E ; Darras, Basil T ; Swoboda, Kathryn J...
Link to Article in PubMed. , 2022

Link: https://doi.org/10.3390/..

15

Expanding the phenotypic spectrum of BCS1L-related mitochon..:

Hikmat, Omar ; Isohanni, Pirjo ; Keshavan, Nandaki...
urn:issn:2328-9503. , 2021

Link: https://hdl.handle.net/1..