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Taiwanese Journal of Obstetrics & Gynecology|December 17, 2014
Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalitiesGabriele Tonni, Mario Lituania, David Chitayat, et al.
American Journal of Obstetrics and Gynecology|September 15, 2005
Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility studyFionnuala M McAuliffe, Katherine W Fong, Ants Toi, et al.
American Journal of Medical Genetics. Part A|September 12, 2012
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?Brian Chung, Aleksander Hinek, Sarah Keating, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Complex II deficiency--a case report and review of the literatureShailly Jain-Ghai, Jessie M Cameron, Almundher Al Maawali, 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.
Orphanet Journal of Rare Diseases|November 13, 2024
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genomeAnastasia Ambrose, Shalini Bahl, Saloni Sharma, et al.
American Journal of Medical Genetics. Part A|May 29, 2013
Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 geneSharon Moalem, Sarah Keating, Patrick Shannon, et al.
Prenatal Diagnosis|February 27, 2009
Cornelia de Lange syndrome (CdLS): prenatal and autopsy findingsKaren Chong, Sarah Keating, Stephanie Hurst, et al.
Prenatal Diagnosis|November 7, 2006
X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findingsShalini Umranikar, Phyllis Glanc, Sheila Unger, et al.
American Journal of Medical Genetics. Part A|November 15, 2007
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findingsDavid Chitayat, Patrick Shannon, Sarah Keating, et al.
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