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American Journal of Medical Genetics. Part A|November 23, 2011
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndromeJane Gillis, Elena Burashnikov, Charles Antzelevitch, et al.
Pediatric Radiology|July 18, 2008
MRI of the fetal eyes: morphologic and biometric assessment for abnormal development with ultrasonographic and clinicopathologic correlationAshley J Robinson, Susan Blaser, Ants Toi, et al.
The Journal of Pediatrics|November 15, 2003
Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complexRima S Bader, David Chitayat, Edmond Kelly, et al.
Prenatal Diagnosis|May 3, 2025
KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct StenosisKimia Ghannad-Zadeh, Patrick Shannon, Rebekah Jobling, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplicationSharon Moalem, Riyana Babul-Hirji, Dmitri J Stavropolous, et al.
The Annals of Thoracic Surgery|January 23, 2013
Unexpected contained rupture of a ductus arteriosus aneurysm found at surgical repair in an infant with Loeys-Dietz syndromeFrederic Jacques, Lars Grosse-Wortmann, Edward J Hickey, et al.
Prenatal Diagnosis|January 21, 2003
Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletionCatherine Barrea, Shi-Joon Yoo, David Chitayat, et al.
American Journal of Medical Genetics. Part A|November 7, 2013
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrumBrian H Y Chung, Tim Bradley, Lars Grosse-Wortmann, et al.
Molecular Human Reproduction|August 1, 2002
Expression of cystic fibrosis transmembrane conductance regulator during early human embryo developmentAvraham Ben-Chetrit, Monica Antenos, Andrea Jurisicova, et al.
BMC Medicine|March 24, 2017
Preclinical evaluation of a TEX101 protein ELISA test for the differential diagnosis of male infertilityDimitrios Korbakis, Christina Schiza, Davor Brinc, et al.
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