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treatable forms of intellectual disability review
#2
opened Oct 5, 2017 by
pnrobinson
updated Jan 21, 2020
Drug treatment of inborn errors of metabolism: a systematic review.
#4
opened Jan 14, 2019 by
pnrobinson
updated Jan 21, 2020
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria.
#5
opened Apr 13, 2019 by
pnrobinson
updated Jan 21, 2020
The Rare Cancer Network: Ongoing Studies and Future Strategy
#6
opened Apr 26, 2019 by
LCCarmody
updated Jan 21, 2020
Good example for testing annotations with MAxO
#7
opened Nov 26, 2019 by
pnrobinson
updated Jan 21, 2020
Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies
#8
opened Jan 25, 2020 by
pnrobinson
updated Jan 25, 2020
Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.
#9
opened Jan 25, 2020 by
pnrobinson
updated Jan 25, 2020
JAK inhibitors for Autoinflammation, immune dysregulation, and eosinophilia
#10
opened Sep 27, 2020 by
pnrobinson
updated Sep 27, 2020
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1
#14
opened Apr 6, 2021 by
pnrobinson
updated Apr 6, 2021
High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency
#15
opened Apr 8, 2021 by
pnrobinson
updated Apr 8, 2021
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency
for curation
#16
opened Jun 30, 2021 by
pnrobinson
updated Jun 30, 2021
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
#17
opened Oct 16, 2021 by
pnrobinson
updated Oct 16, 2021
Congenital disorder of glycosylation, type It
#19
opened Oct 17, 2021 by
pnrobinson
updated Oct 17, 2021
CTLA-4-Ig (Abatacept) treatment
for curation
#20
opened Nov 27, 2021 by
pnrobinson
updated Nov 27, 2021
Rifampicin may be effective for pruritis
for curation
#21
opened Feb 8, 2022 by
pnrobinson
updated Feb 8, 2022
Losartan treatment improves recessive dystrophic epidermolysis bullosa: A case series
#28
opened Apr 18, 2022 by
pnrobinson
updated Apr 18, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant
#29
opened May 10, 2022 by
pnrobinson
updated May 10, 2022
empagliflozin for Glycogen storage disease Ib
#32
opened Aug 7, 2022 by
pnrobinson
updated Aug 7, 2022
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