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Elements of morphology NIH (2009)
ICIMD classification (2021)
ISCN changes (2013)
Sequence Variant Nomenclature HGVS
SSIEM classification (2012)
Standardized pedigree nomenclature (2008)
General Genetics Guidelines
22q11.2 deletion health supervision in children (2023)
Achondroplasia health supervision (2020)
Beckwith-Wiedemann syndrome guideline (2018)
Cardio-facio-cutaneous syndrome (2014)
CHARGE syndrome health supervision (2017)
Disorders of sex development guideline (2016)
Down syndrome health supervision (2022)
EDS international classification (2017)
FASD diagnosis (2015)
Fragile X diagnostic and carrier testing (2005)
Fragile X health supervision (2011)
G6PD deficiency review (2005)
Gorlin syndrome guideline (2022)
Hemihyperplasia, isolated (2009)
HHT international guideline (2020)
Marfan syndrome health supervision (2023)
Marfan syndrome revised Ghent nosology (2010)
Mowat-Wilson syndrome guideline (2018)
NF1 guideline - adults (2018)
NF1 guideline - children (2019)
Noonan syndrome guideline (2010)
Overgrowth syndromes surveillance (2017)
Russell-Silver syndrome guideline (2017)
Tuberous sclerosis diagnosis (2000)
Tuberous sclerosis guideline (2021)
Turner syndrome guideline (2016)
Williams syndrome health supervision (2020)
Genetic Testing Guidelines
Choosing Wisely Canada Medical Genetics (2023)
Copy number variants ACMG (2011)
Digenic inheritance in medical genetics (2013)
Expanded carrier screening ACMG (2013)
Fetal genome-wide sequencing CCMG (2021)
Reporting suspected consanguinity ACMG (2013)
Standards for variant reporting ACMG (2015)
Unclassified variants Europe (2005)
Whole genome Canada (2014)
Whole genome Europe (2013)
Prenatal Guidelines
Amniocentesis with HIV or hepatitis (2003)
Aneuploidy screening singletons (2011)
Aneuploidy screening twins (2011)
Ashkenazi Jewish carrier screening (2006)
Cystic fibrosis carrier testing (2002)
Down syndrome screening (2005)
Maternal serum screening (2004)
Neural tube defects screening (2005)
Non-immune hydrops guideline SMFM (2014)
Non-immune hydrops guideline SOGC (2013)
Parvovirus B19 infection in pregnancy (2003)
Prenatal diagnosis indications (2001)
Prenatal diagnosis techniques (2001)
Skeletal dysplasias prenatal diagnosis (2009)
Soft signs on obstetrical ultrasound (2005)
Stillbirth investigations (2006)
UPD testing ACMG (2001)
UPD testing CCMG (2011)
Hereditary Cancer References
cMMRD diagnosis (2021)
cMMRD diagnostic criteria (2014)
cMMRD management (2017)
Colorectal cancer screening relatives Banff consensus (2018)
CRC triage Canadian Cancer Society (2004)
DICER1, FH, PTEN (2017)
Gene panel sequencing breast-cancer (2015)
Hereditary diffuse gastric cancer guideline (2010)
Li-Fraumeni guidelines (2020)
Li-Fraumeni syndrome Chompret criteria (2009)
Lynch syndrome guideline multi-society (2014)
MTC management (2015)
Muir-Torre Mayo risk score (2014)
NCCN Guidelines
Referral indications ACMG/NSGC (2015)
Metabolic Resources
Breastfeeding in IEM's other than PKU (2005)
Breastfeeding in IMD (2006)
Clinical approach to treatable IMD's (2006)
CLN2 guideline (Orphanet)
Cystinosis standard of care (2012)
Fabry guideline (2019)
Follow-up testing tandem mass spect. (2009)
GA1 nutritional support (1994)
GA1 review (2011)
Galactosemia international guideline (2017)
Gaucher treatment guideline (Ontario)
GSD's nutritional therapy (2008)
GSD I diagnosis and management (2014)
GSD I Glycosade (2015)
GSD I optimal rate of enteral glucose (1986)
GSD I review (2002)
HPP ERT monitoring guideline (2017)
HPP newborns (WRHA)
MCADD review (2008)
MELAS review (2008)
Metabolic myopathies review (2009)
Mito consensus statement (2017)
Mito list of medicines
MMA/PA guidline (2014)
MPS1 review (2009)
PKU breastfeeding (1989)
PKU lower n-3 long-chain polyunsat. FA's (2013)
PKU micronutrient supplementation (2013)
PKU review (2014)
PKU sapropterin (2012)
Pompe diagnosis and management (2006)
Pompe guideline (2016)
Porphyrias review (2012)
UCD management guidelines (2019)
Urea cycle disorders nutritional mgmt. (2007)
Urea cycle disorders review (2012)
VLCADD review (2008)
Zellweger management (2015)
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