Results 151 to 160 of about 10,279 (206)

Myasthenia Gravis in Pregnancy: Prenatal and Postnatal Diagnostic Challenges-A Narrative Review. [PDF]

Diagnostics (Basel)
Gerede A, Danavasi M, Oikonomou E, Papasozomenou P, Kourti V, Potiris A, Chatzakis C, Stavros S, Koutlaki N, Eleftheriadis M.   +9 more
europepmc   +1 more source

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT). [PDF]

Mol Genet Genomic Med
Bellardita M, Romano F, Menta L, Da Silva JSM, Ognibene M, Baldassari S, Di Duca M, Panicucci C, Baratto S, Brolatti N, Pedemonte M, Fiorillo C, Bruno C, Scala M, Zara F, Faravelli F, Madia F, Cappato S, Bocciardi R, Capra V.   +19 more
europepmc   +1 more source

Anesthetic Management of Inguinal Hernia Surgery in an Adult Patient With Arthrogryposis Multiplex Congenita: A Case Report. [PDF]

Cureus
Asimakopoulos T, Prodromakis P, Kouroukli IC.   +2 more
europepmc   +1 more source

Prenatal-Onset Recessive Titinopathies: Clinical Spectrum, Genotype-Phenotype Correlations, and Outcomes. [PDF]

Diagnostics (Basel)
Zheng Y, Shi M, Zhao Y, Chung TCY, Chau MHK, Dong Z, Kwok YKY, Kwan HWA, Chong JSC, Leung TY, Lo TK, Choy KW, Zhang Y, Cao Y.   +13 more
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

Significant improvement following intravenous zoledronate therapy in Bruck syndrome 2 due to a rare <i>PLOD2</i> gene variant. [PDF]

JCEM Case Rep
Patra S, Roy A, Giri S, Tahaseen SM, Nandi D.   +4 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

Erratum regarding missing statements in previously published articles. [PDF]

J Clin Orthop Trauma
europepmc   +1 more source

Classification of arthrogryposis

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2019
AbstractThere is a need for a system to classify various forms of arthrogryposis. None is satisfactory or complete. Nevertheless, several have been developed to meet the needs of clinicians, prenatal diagnosticians, researchers, and basic scientists. They all await more insight into basic mechanisms.
, Eva Kimber, Klaus Dieterich
exaly   +4 more sources