Results 111 to 120 of about 8,553 (167)

Complex Body Wall Closure Defects in Seven Dog Fetuses: An Anatomic and CT Scan Study. [PDF]

Animals (Basel)
Martín-Alguacil N, Cozar JM, Avedillo L.   +2 more
europepmc   +1 more source

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights. [PDF]

Hum Genome Var
Kido J, Ueno H, Misumi Y, Sugawara K, Saito S, Koshimizu E, Matsumoto N, Ueda M, Nakamura K.   +8 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

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

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

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

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

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

J Clin Orthop Trauma
europepmc   +1 more source