Results 121 to 130 of about 10,279 (206)

Expanding the Clinical Spectrum of PIEZO2 Duplications: A Case of Global Motor Delay, Congenital Sensory Neuropathy, and Musculoskeletal Abnormalities. [PDF]

Cureus
Lee G, Villar NM, Vo J, Kang L.
europepmc   +1 more source

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

Double Opposing Stiletto Flaps for Pediatric Finger Flexion Contractures. [PDF]

J Hand Surg Glob Online
Korah HE, Perry L, Galvez MG.
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

Embodied language and early motor restriction: evidence from children with obstetric brachial plexus palsy and arthrogryposis. [PDF]

Front Psychol
Kadieva D, Blagoveshchensky E, Agranovich O, Myachykov A, Shestakova A.   +4 more
europepmc   +1 more source

Rapid functional RNA Analysis via amniocyte transdifferentiation resolves prenatal variant ambiguity in fetal akinesia syndrome. [PDF]

Genet Med Open
Qi Y, Sun J, He W, Wu J, Yin A.
europepmc   +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

[Arthrogryposis].

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

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6. [PDF]

Clin Genet
Misceo D, Terkelsen T, Bøen Keim SM, Bjørnstad PM, Strand ME, Orszagh VC, Jensen UB, Frengen E.   +7 more
europepmc   +1 more source

Gross motor functional classification for arthrogryposis multiplex congenita: protocol for co-development involving public with lived and professional experience. [PDF]

Res Involv Engagem
Araujo CRS, Hyer L, Sienko SE, Buckon C, Costa C, Natera-de Benito D, Donohoe M, Donlevie K, Emblin M, Fafara A, Sullivan JC, Dahan-Oliel N, AMC Registry Team members.   +12 more
europepmc   +1 more source