[图书][B] Examination paediatrics
W Harris - 2011 - books.google.com
… calcium channel CAE childhood absence epilepsy CAH … muscular atrophy SMCP submucosal
cleft palate SMEB severe myoclonic epilepsy borderline SMEI severe myoclonic epilepsy …
cleft palate SMEB severe myoclonic epilepsy borderline SMEI severe myoclonic epilepsy …
The role of the D4Z4 repeat and the KLF15 transcription factor in the facioscapulohumeral muscular dystrophy (FSHD)
P Dmitriev - 2011 - theses.hal.science
… Initially discovered by Duchenne in 1864 as a "descending … muscular dystrophy is the
implication of a particular set of facial … This allowed Landouzy and Déjérine to gain the priority over …
implication of a particular set of facial … This allowed Landouzy and Déjérine to gain the priority over …
Literature-related discovery: A review
RN Kostoff, JA Block, JL Solka, MB Briggs… - Report to the Office of …, 2007 - apps.dtic.mil
… the problem of interest) is a higher priority discovery candidate than a word or phrase that …
that impact a number of problem characteristics. For example, dehydration (water deficiency) …
that impact a number of problem characteristics. For example, dehydration (water deficiency) …
[PDF][PDF] Auvin et al.(43) Pub. Date: Jan. 15, 2009
PFR Lassauniere - Drug NeWs Perspect, 1999 - researchgate.net
… of hearing loss or muscular dystrophies. [0070] A subject of the present invention is also a
… The organic phase is recovered and Washed With 50 ml of Water and 50 ml of salt Water. …
… The organic phase is recovered and Washed With 50 ml of Water and 50 ml of salt Water. …
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development
S Li, J Li, W Shi, Z Nie, S Zhang, F Ma, J Hu, J Chen… - Biomolecules, 2023 - mdpi.com
… codon readthrough agent for spinal muscular atrophy (SMA). … , it is crucial to prioritize targeted
delivery of TRIDs to the … not effective in reducing seizure frequency or improving cognitive, …
delivery of TRIDs to the … not effective in reducing seizure frequency or improving cognitive, …
Separating the wheat from the chaff: the use of upstream regulator analysis to identify true differential expression of single genes within transcriptomic datasets
J Hadwen, S Schock, F Farooq, A MacKenzie… - International Journal of …, 2021 - mdpi.com
… promise (eg, utrophin for Duchenne muscular dystrophy). In the former … In conclusion, we
present a method to prioritize the … impacts in fields as diverse as personalized drug discovery, …
present a method to prioritize the … impacts in fields as diverse as personalized drug discovery, …
[图书][B] Making ALS matter: Disease activism and disease identity in amyotrophic lateral sclerosis, 1850–2000
JE Clark - 2010 - search.proquest.com
… stand on its own as a research priority. Though Lou Gehrig's diagnosis with … that different
types of seizures with disparate biological … lateral sclerosis, Duchenne muscular dystrophy, and …
types of seizures with disparate biological … lateral sclerosis, Duchenne muscular dystrophy, and …
Identification of the sphingolipid desaturase DEGS1 as a novel gene for a leukodystrophy in therapeutic hope
DC Pant - 2018 - tdx.cat
… that represent a reliable discovery cohort for the application … to assess variant pathogenicity
and prioritize variants before … spinal muscular atrophy and progressive myoclonus epilepsy…
and prioritize variants before … spinal muscular atrophy and progressive myoclonus epilepsy…
[PDF][PDF] Department of Neurology
LR Wechsler - Citeseer
… agents for patients with muscular dystrophy. New funding … continues to be a high priority.
The department will continue to … for optimal seizure control and minimal side-effects. Patients …
The department will continue to … for optimal seizure control and minimal side-effects. Patients …