Results 131 to 140 of about 10,279 (206)

Clinical Variability Within the <i>PLOD2</i>-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series. [PDF]

Genes (Basel)
Merkuryeva ES, Melnik EA, Kenis VM, Trofimova SI, Agranovich OE, Buklemishev YV, Rustamov KK, Chistol DV, Nagornova TS, Zabnenkova VV, Markova TV.   +10 more
europepmc   +1 more source

The Burden of Lower Limb Deformities in Low- and Lower-Middle-Income Countries: A Scoping Review. [PDF]

J Pediatr Soc North Am
Montoya RL, Agoro KS, Jodah R, Sabharwal S, Sabatini CS.   +4 more
europepmc   +1 more source

Extremely rare case report of CEBALID syndrome presenting as congenital arthrogryposis. [PDF]

BMC Pediatr
Dirani FA, Kahil G, Jaber R, Slim Z, El Hajj R, Chokr I.   +5 more
europepmc   +1 more source

Biallelic variants in the <i>UTRN</i> gene cause a novel form of multiple congenital arthrogryposis. [PDF]

Front Genet
Melnik E, Akimova D, Markova T, Tatarskiy E, Tvorogova A, Zabnenkova V, Kenis V, Agranovich O, Skoblov M, Dadali E.   +9 more
europepmc   +1 more source

Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy. [PDF]

BMC Neurol
Pera MC, Pisanò G, Gnazzo M, Moretti S, Gambini L, Percesepe A, Esposito S, Perrone S.   +7 more
europepmc   +1 more source

Arthrogryposis [PDF]

, 2020
openaire   +1 more source

The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital Myopathy. [PDF]

Hum Mutat
Altin N, Mamchaoui K, Ohana J, Bigot A, Corradi B, Maragliano L, Madia F, Ognibene M, Nosrati MSS, Paladini D, Iacomino M, Rashid A, Bodamer O, Quijano-Roy S, Punetha J, Capra V, Zara F, Trollet C, Scala M.   +18 more
europepmc   +1 more source

The evolving genetic landscape of neuromuscular fetal akinesias. [PDF]

J Neuromuscul Dis
Haliloğlu G, Ravenscroft G.
europepmc   +1 more source