Results 131 to 140 of about 13,759 (208)

Pediatric Cohort of Charcot-Marie-Tooth Disease: Clinical Features and Genetic Distribution. [PDF]

Neurol Genet
Alawneh I, Alemán A, Nigro E, Bouchard M, Gonorazky HD.   +4 more
europepmc   +1 more source

Anesthetic Considerations in Congenital Myasthenic Syndrome: A Case Report. [PDF]

Cureus
Knio ZO, Dean J, O'Brien J.
europepmc   +1 more source

The First Known Case Report of a Novel Homozygous Nonsense Variant in the OSBPL9 Gene Associated With Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex. [PDF]

Cureus
Tamhankar PM, Kachhadiya T, Tamhankar V, Menon PG, Vaniawala S, Mithbawkar SM.   +5 more
europepmc   +1 more source

Health-Related Quality of Life of Individuals with Physical Disabilities in Childhood. [PDF]

Children (Basel)
Church C, Patil S, Butler S, Miller F, Salazar-Torres JJ, Lennon N, Shrader MW, Donohoe M, Kalisperis F, Mackenzie WGS, Nichols LR.   +10 more
europepmc   +1 more source

Arthrogryposis Multiplex Congenita [PDF]

Proceedings of the Royal Society of Medicine, 1959
openaire   +2 more sources

Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven. [PDF]

Eur J Transl Myol
Finsterer J.
europepmc   +1 more source

Arthrogryposis Multiplex Congenita (AMC) and counselling before and during pregnancy: a questionnaire study. [PDF]

Orphanet J Rare Dis
Arduç A, Slootbeek J, de Vries JIP, Tan-Sindhunata MB, Stoelinga F, Sawatzky B, Filges I, Linskens IH, Arthrogryposis and Pregnancy Study Group.   +8 more
europepmc   +1 more source

Arthrogryposis.

Canadian journal of surgery. Journal canadien de chirurgie, 1968
openaire   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum. [PDF]

Ann Clin Transl Neurol
Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero D, Codina A, Ortez C, Medina J, DeSena DeCabo L, Carrera-García L, Expósito-Escudero J, Jou C, Tizzano EF, Nascimento A, Natera-de Benito D.   +13 more
europepmc   +1 more source

Infantile systemic Hyalinosis in a 6-month-old male: identification of homozygous ANTXR2 gene mutation. [PDF]

Oxf Med Case Reports
Moshfegh F, Hosseinzade Z, Javanbakht M, Javid A, Mozaffari M.   +4 more
europepmc   +1 more source