Published Version
Open DOI LinkAbstract
The Saguenay–Lac-Saint-Jean (SLSJ) region located in the province of Quebec was settled in the 19th century by pioneers issued from successive migration waves starting in France in the 17th century...
Full Text
Open DOI Link
Sign-in/Register to access full text options Topics from this Paper
Province Of Quebec- Carrier Testing
- Pathogenic Variants
- Rare Diseases
- Founder Mutations + Show 5 more
Create a personalized feed of these topics
Get StartedTalk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callSimilar Papers
Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands 
Relevant
Not Relevant
Kidney International Reports
Aug 1, 2021
RelevantNot Relevant La prévalence et la distribution des maladies génétiques au Québec RelevantNot Relevant
- médecine/sciences
- Nov 1, 2007
RelevantNot Relevant Abstract PS8-18: Describing the cancer spectrum in families with CHEK2 pathogenic and likely pathogenic variants by mutation type RelevantNot Relevant
- Cancer Research
- Feb 15, 2021
RelevantNot Relevant Pushing the envelope in genetic analysis of species invasion RelevantNot Relevant
- Molecular Ecology
- Jan 1, 2015
RelevantNot Relevant Origins and Divergence of the Roma (Gypsies) RelevantNot Relevant
- The American Journal of Human Genetics
- Dec 1, 2001
RelevantNot Relevant High Throughput Sequencing in 3449 Patients with Bleeding and Platelet Disorders: Novel Gene Discovery and Robust Diagnosis RelevantNot Relevant
- Blood
- Dec 7, 2017
RelevantNot Relevant A “Fille du Roy” Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians RelevantNot Relevant
- The American Journal of Human Genetics
- Aug 1, 2005
RelevantNot Relevant From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease RelevantNot Relevant
- iScience
- Feb 1, 2021
RelevantNot Relevant What is the influence of the seed bank on the persistence and genetic structure of plant populations that experience a high level of disturbance? RelevantNot Relevant
- New Phytologist
- Apr 10, 2014
RelevantNot Relevant Europe as a bridgehead in the worldwide invasion history of grapevine downy mildew, Plasmopara viticola RelevantNot Relevant
- Current Biology
- May 1, 2021
RelevantNot Relevant Genetic structure of a linear population of Beta vulgaris ssp. maritima (sea beet) revealed by isozyme and RFLP analysis RelevantNot Relevant
- Heredity
- Feb 1, 1996
RelevantNot Relevant Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy RelevantNot Relevant
- Human Mutation
- Aug 9, 2023
RelevantNot Relevant Genetic Structure of Pastoral and Farmer Populations in the African Sahel RelevantNot Relevant
- Molecular Biology and Evolution
- Mar 24, 2011
RelevantNot Relevant Screening of pathogenic genes in a Chinese familial dilated cardiomyopathy pedigree from Inner Mongolia RelevantNot Relevant
- Chinese journal of cardiovascular diseases
- Mar 24, 2019
RelevantNot RelevantREAD MORE FROMJournal of Medical Genetics
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice 
Just PublishedRelevantNot Relevant
Just Published- Journal of Medical Genetics
- Nov 29, 2023
RelevantNot Relevant Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study Just PublishedRelevantNot Relevant
Just Published- Journal of Medical Genetics
- Nov 29, 2023
RelevantNot Relevant Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review Just PublishedRelevantNot Relevant
Just Published- Journal of Medical Genetics
- Nov 27, 2023
RelevantNot Relevant Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects Just PublishedRelevantNot Relevant
Just Published- Journal of Medical Genetics
- Nov 27, 2023
RelevantNot Relevant Familial Alzheimer’s disease associated with heterozygous NPC1 mutation RelevantNot Relevant
- Journal of Medical Genetics
- Nov 21, 2023
RelevantNot Relevant Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta 
Open AccessRelevantNot Relevant
Open Access- Journal of Medical Genetics
- Nov 18, 2023
RelevantNot Relevant Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries RelevantNot Relevant
- Journal of Medical Genetics
- Nov 18, 2023
RelevantNot Relevant De novo variants in KCNJ3 are associated with early-onset epilepsy RelevantNot Relevant
- Journal of Medical Genetics
- Nov 14, 2023
RelevantNot Relevant Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study Open AccessRelevantNot Relevant
Open Access- Journal of Medical Genetics
- Nov 8, 2023
RelevantNot Relevant Titin copy number variations associated with dominant inherited phenotypes RelevantNot Relevant
- Journal of Medical Genetics
- Nov 7, 2023
RelevantNot Relevant