Results 111 to 120 of about 9,762 (167)

Malformation Pattern and Molecular Findings in the <i>FGFR1</i>-Related Hartsfield Syndrome Phenotype. [PDF]

Med Sci (Basel)
Gaudioso F, Pascolini G.
europepmc   +1 more source

Analysis of prenatal ultrasound in diagnosing fetal craniosynostosis and its correlation with genetic anomalies: description of two cases and literature analysis. [PDF]

Quant Imaging Med Surg
Li C, Zhang C, Ge T, Tang Z, Song X, Lin X, Xie L.   +6 more
europepmc   +1 more source

KCNQ1 and GJA1 Variants Associated With Arrhythmogenic Right Ventricular Cardiomyopathy With a Lethal Outcome. [PDF]

JACC Case Rep
Tramèr L, Zumstein D, Medeiros-Domingo A, Vischer AS, Erdogan F, Tanner FC, Manka R, Prampolini L, Duru F, Saguner AM.   +9 more
europepmc   +1 more source

CONGENITAL ANOMALIES OF THE UPPER LIMBS IN A UNIVERSITY CENTER: A CROSS-SECTIONAL STUDY. [PDF]

Acta Ortop Bras
Gomes DJL, Sabongi RG, de Moraes VY, Nakachima LR, Belloti JC, Faloppa F.   +5 more
europepmc   +1 more source

Frem2 knockout mice exhibit Fraser syndrome phenotypes and neonatal lethality due to bilateral renal agenesis. [PDF]

Sci Rep
Simikyan RG, Zhang X, Strelkova O, Li N, Zhu M, Eckhard A, Baranov PY, Wu X, Richey L, Indzhykulian AA.   +9 more
europepmc   +1 more source

Fraser Syndrome: A Narrative Review Based on a Case from Vietnam and the Past 20 Years of Research. [PDF]

Diagnostics (Basel)
Thi Pham XT, Nguyen PN, Hoang XS.
europepmc   +1 more source

CPT Codes for Pediatric Orthopaedics. [PDF]

J Pediatr Soc North Am
Dale Blasier R, Neal K.
europepmc   +1 more source

Prenatal diagnosis of Apert syndrome with continuation of pregnancy-a report of two cases. [PDF]

Transl Pediatr
Vida MVG, Makabe SF, Callado GY, Caldas TMRDC, de Souza LRMF, Araujo Júnior E, Peixoto AB.   +6 more
europepmc   +1 more source

Surgical Correction of a Severe Bilateral Cleft Foot Using a Diamond Incision and Cannulated Screw Fixation: A Case Report and Literature Review. [PDF]

Cureus
Alzein HH, Mouslem H, El Lakis AA, Zahwi A, Daher Y.   +4 more
europepmc   +1 more source

CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype. [PDF]

JACC Case Rep
Fanucci V, Nayak HM, Kohli U.
europepmc   +1 more source