Sandra A. Farrell
Credit Valley Hospital
Mississauga, ON, Canada
Mississauga, ON, Canada
Last Updated: 09/26/2026
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Found 9 publications
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Journal: American journal of medical genetics. Part A
Published: February 08, 2017
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
Journal: American journal of medical genetics. Part A
Published: August 15, 2015
The impact of maternal weight discrepancies on prenatal screening results for Down syndrome.
Journal: Prenatal diagnosis
Published: March 21, 2013
Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication.
Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication.
Journal: European journal of medical genetics
Published: March 12, 2013
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Journal: Orphanet journal of rare diseases
Published: February 21, 2013
Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.
Journal: Canadian family physician Medecin de famille canadien
Published: January 24, 2013
Investigation of NRXN1 deletions: clinical and molecular characterization.
Journal: American journal of medical genetics. Part A
Published: August 07, 2012
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Last Updated: 09/26/2026