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Clinical Dysmorphology|August 21, 2021
Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicismEliza A Phillips, Oana Caluseriu, Kamilla Schlade-Bartusiak, et al.Prenatal Diagnosis|June 12, 2021
Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomesAisling A Young, Angela McBrien, Oana Caluseriu, et al.Bone|July 16, 2023
X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cellsChelsey Grimbly, Karissa Ludwig, Zenghui Wu, et al.American Journal of Medical Genetics. Part A|October 11, 2013
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solvedOana Caluseriu, Brian R Lowry, Ross McLeod, et al.American Journal of Medical Genetics. Part A|October 7, 2005
Clinical features of 78 adults with 22q11 Deletion SyndromeAnne S Bassett, Eva W C Chow, Janice Husted, et al.Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC|September 4, 2016
Prenatal Array Comparative Genomic Hybridization in Fetuses With Structural Cardiac AnomaliesJoanna Lazier, Deborah Fruitman, Julie Lauzon, et al.American Journal of Medical Genetics. Part A|September 24, 2018
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disordersAlison Eaton, Francois P Bernier, Caitlin Goedhart, et al.European Journal of Human Genetics : EJHG|March 29, 2021
Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formationLance P Doucette, Nicole C L Noel, Yi Zhai, et al.Prenatal Diagnosis|January 21, 2022
Extra-cardiac diagnoses and postnatal outcomes of fetal tetralogy of fallotRishav Sharma, Karen Y Niederhoffer, Oana Caluseriu, et al.Journal of the American Society of Nephrology : JASN|July 26, 2002
Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomyMichael Goldman, Adam Smith, Cheryl Shuman, et al.Pageof 6