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1.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37531237
2.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35108495
3.
Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion.
Cell Stem Cell
; 27(2): 326-335.e4, 2020 08 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32673568
4.
Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency.
JIMD Rep
; 45: 9-20, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30209782
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