Results 241 to 250 of about 354,249 (306)

Editorial: Neuroglycobiology. [PDF]

open access: yesFront Mol Neurosci
Hanus C, Mealer RG, Zhao L, Klarić TS.
europepmc   +1 more source

GPR56/ADGRG1 regulates development and maintenance of peripheral myelin [PDF]

open access: yes, 2018
Ackerman, Sarah D   +9 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco   +2 more
wiley   +1 more source

The influence of paternal preconception health on birth defects and head circumference: A scoping review. [PDF]

open access: yesPLOS Glob Public Health
Dennis CL   +8 more
europepmc   +1 more source

Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Immuno-Hematologic Trajectories. [PDF]

open access: yesJ Clin Med
Kural RF   +13 more
europepmc   +1 more source

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