E-LIB Suche - Ergebnisse für: Manor, Joshua

1

Untargeted Metabolomics, Targeted Care: The Clinical Utilit..:

, In: Clinical Metabolomics Applications in Genetic Diseases,

Manor, Joshua ; Elsea, Sarah H. - p. 117-145 , 2023

2

Heteroplasmic pathogenic m.12315G>A variant in MT‐TL2 prese..:

Snyder, Matthew T. ; Manor, Joshua ; Gijavanekar, Charul...
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

3

Untargeted Metabolomics in Newborn Screening:

, In: Clinical Metabolomics Applications in Genetic Diseases,

Manor, Joshua ; Elsea, Sarah H. - p. 97-116 , 2023

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

4

NAXE deficiency: A neurometabolic disorder of NAD(P)HX repa..:

Manor, Joshua ; Calame, Daniel ; Gijavanekar, Charul...
Molecular Genetics and Metabolism. 136 (2022) 2 - p. 101-110 , 2022

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

5

Niacin therapy improves outcome and normalizes metabolic ab..:

Manor, Joshua ; Calame, Daniel G. ; Gijavanekar, Charul...
Brain. 145 (2022) 5 - p. e36-e40 , 2022

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

6

A rare description of pure partial trisomy of 16q12.2q24.3 ..:

Manor, Joshua ; Dinu, Daniela ; Azamian, Mahshid S....
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 2903-2912 , 2021

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

7

ABCD1 and X‐linked adrenoleukodystrophy: A disease with a m..:

Manor, Joshua ; Chung, Hyunglok ; Bhagwat, Pranjali K..
Journal of Neuroscience Research. 99 (2021) 12 - p. 3170-3181 , 2021

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

8

Overgrowth Syndromes—Evaluation, Diagnosis, and Management:

Manor, Joshua ; Lalani, Seema R.
Frontiers in Pediatrics. 8 (2020) - p. , 2020

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

9

Corrigendum: Overgrowth Syndromes—Evaluation, Diagnosis, an..:

Manor, Joshua ; Lalani, Seema R.
Frontiers in Pediatrics. 8 (2020) - p. , 2020

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

10

Pneumococcal infection is associated with relatively marked..:

Manor, Joshua ; Wiener-Well, Yonit ; Ganzel, Chezi
Journal of Infection. 72 (2016) 6 - p. 756-759 , 2016

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

11

"No Good Deed Goes Unpunished": Ignaz Semmelweis and the St..:

Manor, Joshua ; Blum, Nava ; Lurie, Yoav
Infection Control & Hospital Epidemiology. 37 (2016) 8 - p. 881-887 , 2016

Link: https://doi.org/10.1017/..

12

Use of Isotope-Edited FTIR to Derive a Backbone Structure o..:

Manor, Joshua ; Arbely, Eyal ; Beerlink, Andrè..
The Journal of Physical Chemistry Letters. 5 (2014) 15 - p. 2573-2579 , 2014

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

13

Gaining insight into membrane protein structure using isoto..:

Manor, Joshua ; Arkin, Isaiah T.
Biochimica et Biophysica Acta (BBA) - Biomembranes. 1828 (2013) 10 - p. 2256-2264 , 2013

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

14

Environment Polarity in Proteins Mapped Noninvasively by FT..:

Manor, Joshua ; Feldblum, Esther S. ; Zanni, Martin T..
The Journal of Physical Chemistry Letters. 3 (2012) 7 - p. 939-944 , 2012

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

15

Gating Mechanism of the Influenza A M2 Channel Revealed by ..:

Manor, Joshua ; Mukherjee, Prabuddha ; Lin, Yu-Shan...
Structure. 17 (2009) 2 - p. 247-254 , 2009

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