Results 191 to 200 of about 37,922 (217)

Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B. [PDF]

Prenat Diagn
Lepri FR, Graziani L, Menale L, Viggiano M, Bucci R, Gentile A, Caforio L, Novelli A.   +7 more
europepmc   +1 more source

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System. [PDF]

Mol Genet Genomic Med
Wang Z, Bai W, Cai X, Huang S, Zeng J, Liang X, Hong X.   +6 more
europepmc   +1 more source

Zebrafish genetic model of neuromuscular degeneration associated with Atrogin-1 expression. [PDF]

PLoS Genet
Menard R, Morin E, Morse D, Halluin C, Pende M, Baanannou A, Grendler J, Fuqua H, Li J, Lancelot L, Drent J, Bonnet F, Graber JH, Murawala P, Dray C, Pradère JP, Coffman JA, Madelaine R.   +17 more
europepmc   +1 more source

Respiratory effects of nusinersen treatment in pediatric patients with spinal muscular atrophy types 2 and 3. [PDF]

Eur J Pediatr
Rochman M, Shay Levanon D, Amirav I, Be'er M, Cahal M, Besor O, Fattal-Valevski A, Lavie M.   +7 more
europepmc   +1 more source

Hirayama disease: a rare cause of cervical myelopathy. [PDF]

Oxf Med Case Reports
Khan A, Duhan A, Mangla R, Mangla M, Al-Badri SG.   +4 more
europepmc   +1 more source

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Oncologic emergencies and urgencies: A comprehensive review

Ca-A Cancer Journal for Clinicians, 2022
Bonnie Gould Rothberg, David E Gerber, Jason J Bischof   +2 more
exaly  

Drug delivery to the central nervous system

Nature Reviews Materials, 2021
, Suzie H Pun
exaly