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American_Journal
Documents
(145)
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# proj.
# Ann.
updated_at
PMC
5986733
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuron
52.3 KB
2020-09-16
4
-
PMC
5985538
Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome Abstract Townes-Brocks syn
62.5 KB
2021-02-10
3
-
PMC
5985537
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome Abstract Copy
60.9 KB
2020-09-16
3
-
PMC
5985360
Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene
35.8 KB
2021-02-10
3
-
PMC
5985359
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity
45.2 KB
2021-02-10
3
-
PMC
5985340
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Poste
43.7 KB
2020-09-15
4
-
PMC
5985285
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Car
24.2 KB
2021-02-10
3
-
PMC
5985284
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammagl
24 KB
2021-02-10
3
-
PMC
5812923
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment Abstract The genetic basis of
41.7 KB
2021-02-10
3
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PMC
5812896
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder Abstract ACTB encode
34.7 KB
2021-02-10
3
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