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Genetics & Metabolism: Background|Review
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General
Ambiguous genitalia (2011)
Aortopathies comparative risks (2022)
Aortopathies genetics (2017)
Aortopathy and tortuosity (2015)
ARPKD and differential (2018)
Arteriopathy, cerebral (2019)
Arthrogryposis (2015)
Arthrogryposis (2016)
Autism clinical genetics evaluation ACMG (2013)
Autism genetic syndromes (2013)
Bronchiectasis genetic causes (2012)
Cataracts (2017)
Channelopathies (2014)
Cilia spectrum of diseases (2011)
Ciliopathies (2011)
Cohesinopathies (2017)
Collagenopathies (2014)
Coloboma (2004)
Congenital adrenal hyperplasias (2017)
Congenital adrenal hypoplasias (2018)
Congenital Diaphragmatic Hernia (2014)
Congenital heart disease, genetic basis (2018)
Congenital heart disease genetics (2010)
Craniosynostosis (2016)
Cutis aplasia (2013)
De novo mutations in health and disease (2016)
Developmental disorders of the dentition (2013)
Diabetic embryopathy (2013)
Disorders of cornification (2016)
Ectodermal dysplasias (2009)
Ehlers-Danlos syndromes, the rare types (2017)
Epidermolysis bullosa (2014)
Episodic movement disorders (2012)
Failure to thrive (2015)
Gray matter heterotopia (2015)
Hair disorders (2019)
Hearing loss (2014)
Hemolytic anemias (2017)
Hereditary myelopathies (2018)
Hereditary neuronopathies review (2023)
Heterotaxy (2012)
Hirschsprung (2021)
Hyperpigmentation disorders (2014)
IBD monogenic causes (2014)
Inherited arrhythmias (2011)
Inherited bone marrow failure syndromes (2013)
Intellectual disability genetics (2006)
Intestinal pseudo-obstruction (2018)
Intracranial calcifications (2014)
Klinefelter management (2014)
Lipid/liprotein disorders genetics (2016)
Lipodystrophy syndromes (2016)
Lynch syndrome cancer risk (2013)
Microdeleltion/microduplication neurodevelopmental disoders (2012)
Microdeletion/microduplication syndromes (2014)
Motor neuron disease (2015)
Moyamoya genetic causes (2015)
Muscle MRI neuromuscular (2020)
Neutropenias (2010)
Nystagmus, infantile (2017)
OAVS genetic causes (2022)
Obesity single-gene and syndromic (2016)
Oculocutaneous albinism genes (2014)
Oculocutaneous albinism review (2007)
Osteogenesis imperfecta (2019)
Overgrowth syndromes (2018)
Palmoplantar keratoderma, syndromic (2018)
Periodic fever approach (2011)
Pharmacogenetics fundamentals (2016)
Pharmacogenomic biomarkers (2017)
Platelet disorders (2009)
Proteinuria (2011)
Pseudo-TORCH Dx criteria (2001)
Radial ray defects (2007)
Rasopathies (2013)
Renal cystic disease (2018)
Repeat expansion diseases (2015)
Short stature (2020)
Skeletal dysplasias, molecular classification (2015)
Skeletal dysplasias, nosology and classification (2019)
Skeletal dysplasias, overview (2018)
Skeletal dysplasias, pelvis (2017)
Skeletal dysplasias, predicting lethality (2017)
Skeletal dysplasias, radiological semiology (2001)
Sotos syndrome review (2008)
Sudden cardiac death genetics (2015)
Supernumerary teeth (2016)
Surfactant protein dysfunction (2017)
Syndactyly (2012)
Tessier facial clefts (2018)
VACTERL genetic overlap (2016)
Vascular anomalies ISSVA appendices (2015)
Vascular anomalies ISSVA classification (2015)
Vascular anomalies medical and genetic aspects (2013)
Vascular anomalies variant discovery (2018)
Investigation
EMG/NCS (2005)
Endocrine hypertension (2017)
FISH (2016)
Fragile X molecular testing (2019)
Glucosylsphingosine for Gaucher (2019)
Iris transillumination technique
Menkes HVA:VMA ratio (2005)
Mito L:P ratio (2007)
MLPA (2012)
MR imaging muscle (2018)
NGS, Illumina introduction (2019)
Transcriptome sequencing (2017)
Prenatal
Extremities (SMFM Consult Series #2, 2019)
Facial anomalies (SMFM Consult Series #1, 2019)
Genitourinary anomalies (SMFM Consult Series #4, 2021)
Intracranial anomalies (SMFM Consult Series #3, 2020)
NIPT discordant (2017)
Non-immune hydrops categories (2015)
Non-immune hydrops fetalis etiology (2012)
Polyhydramnios (SMFM Consult Series #46, 2018)
Soft signs (SMFM Consult Series #57, 2021)
Hereditary Cancer
Hallmarks of cancer (2011)
Hallmarks of cancer, revisiting (2017)
Hereditary cancer syndromes (2013)
Pediatric tumors (2017)
Soft tissue sarcoma germline predisposition (2022)
Metabolics
Agenesis of the corpus callosum approach (2014)
Amino acid synthesis deficiencies (2017)
Bicarbonate replacement (2020)
CDG N-glycosylation Dx (2011)
CDG review (2007)
Cerebellar ataxia in childhood (2012)
Cerebellar ataxia in childhood, imaging (2012)
Cerebellar ataxia in childhood, imaging supplement (2012)
Congenital disorders of autophagy (2016)
Creatine deficiency treatment (2022)
Dystroglycanopathies brain involvement (2008)
Fabry antidrug antibodies (2018)
GSD's review (2018)
IEM's brain disorders newborn/young infant (2014)
IEM's epilepsy (2013)
IEM's eye findings (2010)
IEM's floppy baby (2003)
IEM's FTT (2009)
IEM's hyperammonemia (2018)
IEM's intellectual disability (2014)
IEM's leukodystrophy (2015)
IEM's MRI & MRS patterns (2022)
IEM's nephrolithiasis (2010)
IEM's parkinsonism
IEM's patterns of brain injury (2012)
IEM's peripheral neuropathy (2007)
IEM's progressive myoclonic epilepsy (2015)
IEM's psychosis (2017)
IEM's rhabdomyolysis (2015)
IEM's stroke (2014)
IEM's vacuolated lymphocytes (2005)
Lyso biomarkers (2016)
Lyso storage diseases (2017)
Metabolic brain disorders newborns/young infants (2014)
Mito anesthesia (2017)
Mito consensus statement (2017)
Mito diagnosis and treatment (2014)
Mito endocrinopathies (2013)
Mito in-depth evaluation (2008)
Mito m.3243 heteroplasmy tool
Mito MELAS arginine therapy (2020)
Mito MELAS heteroplasmy (2017)
Mito MELAS management (2016)
Mito MELAS precon/prenatal (2022)
Mito mutations human disease (2005)
Mito vs. CDG phenotypes (2018)
Motor neuropathies (2017)
MPS imaging findings (2013)
Myopathies electrodiagnosis (2013)
Myopathies pattern recognition (2014)
Myopathies related to GSD's (2018)
Myopathies vacuolar (2020)
Myopathy, lipid storage (2010)
NBIA (2018)
Nephrolithiasis secondary causes (2017)
Neuroimaging OA's and AA'opathies (2018)
Pediatric fatty liver diseases (2018)
Pediatrics in Review IEM's (2009)
Peroxisomal single enzyme deficiencies (2006)
Peroxisome disease review (2017)
Porphyric neuropathy (2004)
Riboflavin metabolism disorders (2019)
Transplantation, HSCT recipients (2016)
Transplantation, liver donors (2015)
Transplantation, liver recipients (2013)
Urea cycle secondary inhibition (2014)
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