Results 111 to 120 of about 13,759 (208)

From Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis. [PDF]

Cureus
Nicoletti M, Gilmard C, Tessier A, Steenhaut P.   +3 more
europepmc   +1 more source

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

Perspectives for the Use of Neurotechnologies in Conjunction With Muscle Autotransplantation in Children

Frontiers in Neuroscience, 2019
Evgueni Blagovechtchenski, Olga Agranovich, Yelisaveta Kononova, Maria Nazarova, Maria Nazarova, Vadim V. Nikulin, Vadim V. Nikulin   +6 more
doaj   +1 more source

An Overview of Developmental Disorders Leading to Dystocia in Cattle. [PDF]

Reprod Domest Anim
Agerholm JS, Drögemüller C, Steffen DJ, Jacinto JGP.   +3 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

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

The hip in arthrogryposis [PDF]

, 2015

core   +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

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

[Arthrogryposis].

Reumatismo, 2003
L, SCHIAVETTI, E, CERIMELE
openaire   +1 more source