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Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape

BMC health services research, 2017-02, Vol.17 (1), p.146-146, Article 146

2017

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Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

Clinical genetics, 2014-09, Vol.86 (3), p.246-251

2014

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Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene

Gene, 2013-07, Vol.524 (1), p.59-64

2013

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Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome

Journal of pediatric urology, 2017-04, Vol.13 (2), p.203.e1-203.e6

2017

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Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Cytogenetic and genome research, 2006-01, Vol.115 (3-4), p.254-261

2006

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Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

Molecular genetics and metabolism reports, 2015-03, Vol.2 (C), p.34-37

2015

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Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

European journal of human genetics : EJHG, 2014-12, Vol.22 (12), p.1345-1350

2014

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Chronic exertional compartment syndrome in the differential diagnosis of peripheral artery disease in older patients with exercise-induced lower limb pain

Journal of vascular surgery, 2021-06, Vol.73 (6), p.2114-2121

2021

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Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives

European journal of public health, 2017-04, Vol.27 (2), p.372-377

2017

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Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.171-177

2016

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Rheology of perfluoropolyether lubricants

IEEE transactions on magnetics, 2001-07, Vol.37 (4), p.1827-1829

2001

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Universal drag reduction characteristics of polyisobutylene in a rotating disk apparatus

Polymer (Guilford), 1999-07, Vol.40 (16), p.4527-4530

1999

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O18 L’absence de cavéoline-1 induit la lipodystrophie congénitale de Berardinelli-Seip

Diabetes & metabolism, 2008, Vol.34, p.H14-H14

2008

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ANALYSIS OF UNSTEADY NATURAL AND VENTILATED CAVITATING FLOWS AROUND A 2-D WEDGE SHAPE

Journal of Computational Fluids Engineering, 2017-06, Vol.22 (2), p.35-43

2017

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Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum

Clinical genetics, 2018-04, Vol.93 (4), p.800-811

2018

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Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives: Table 1

European journal of public health, 2016-08, p.ckw110

2016

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Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

Journal of community genetics, 2019-04, Vol.10 (2), p.249-257

2019

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Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study

Journal of genetic counseling, 2018-06, Vol.27 (3), p.635-646

2018

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High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups

Brazilian journal of medical and biological research, 2003-10, Vol.36 (10), p.1359-1365

2003

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Report from the 20th annual Western Canadian Gastrointestinal Cancer Consensus Conference; Saskatoon, Saskatchewan; 28-29 September 2018

Current oncology (Toronto), 2019-12, Vol.26 (6), p.e773-784

2019

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Effects of experimentally generated bull antisperm antibodies on in vitro fertilization

Biology of reproduction, 1999-06, Vol.60 (6), p.1285-1291

1999

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Synthesis and electrorheological characteristics of microencapsulated polyaniline particles with melamine–formaldehyde resins

Polymer (Guilford), 2001-09, Vol.42 (19), p.8277-8283

2001

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Report from the 19th annual Western Canadian Gastrointestinal Cancer Consensus Conference; Winnipeg, Manitoba; 29-30 September 2017

Current oncology (Toronto), 2018-08, Vol.25 (4), p.275-284

2018

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Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

Genetics and molecular research, 2016-02, Vol.15 (1)

2016

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Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation

Genetics and molecular research, 2014-06, Vol.13 (2), p.4159-4164

2014

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Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene

Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

Chronic exertional compartment syndrome in the differential diagnosis of peripheral artery disease in older patients with exercise-induced lower limb pain

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?

Rheology of perfluoropolyether lubricants

Universal drag reduction characteristics of polyisobutylene in a rotating disk apparatus

O18 L’absence de cavéoline-1 induit la lipodystrophie congénitale de Berardinelli-Seip

ANALYSIS OF UNSTEADY NATURAL AND VENTILATED CAVITATING FLOWS AROUND A 2-D WEDGE SHAPE

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives: Table 1

Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study

High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups

Report from the 20th annual Western Canadian Gastrointestinal Cancer Consensus Conference; Saskatoon, Saskatchewan; 28-29 September 2018

Effects of experimentally generated bull antisperm antibodies on in vitro fertilization

Synthesis and electrorheological characteristics of microencapsulated polyaniline particles with melamine–formaldehyde resins

Report from the 19th annual Western Canadian Gastrointestinal Cancer Consensus Conference; Winnipeg, Manitoba; 29-30 September 2017

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation

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