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A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α

Journal of medical genetics, 2008-04, Vol.45 (4), p.239-243

2008

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Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1411-1419

2010

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Human Methionine Synthase: cDNA Cloning and Identification of Mutations in Patients of the cblG Complementation Group of Folate/Cobalamin Disorders

Human molecular genetics, 1996-12, Vol.5 (12), p.1867-1874

1996

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The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations

Molecular syndromology, 2013-03, Vol.4 (3), p.125-135

2013

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19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression

Clinical genetics, 2012-01, Vol.81 (1), p.56-63

2012

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Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis

The Lancet (British edition), 1998-01, Vol.351 (9098), p.242-247

1998

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A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy

Molecular genetics and metabolism, 2006-09, Vol.89 (1), p.129-133

2006

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Characterization of Four Novel Epithelial Ovarian Cancer Cell Lines

In vitro cellular & developmental biology. Animal, 2000-06, Vol.36 (6), p.357-361

2000

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Uniparental disomy: can SNP array data be used for diagnosis?

Genetics in medicine, 2012-08, Vol.14 (8), p.753-756

2012

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P.057 Next-generation sequencing to determine a genetic cause of familial intracranial aneurysms

Canadian journal of neurological sciences, 2017-06, Vol.44 (S2), p.S27-S27

2017

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Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Journal of medical genetics, 2007-09, Vol.44 (9), p.556-561

2007

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Heart defects and other malformations in the Inuit in Canada: a baseline study

International journal of circumpolar health, 2004-09, Vol.63 (3), p.251-266

2004

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Translocation (Y;22) resulting in the loss of SHOX and isolated short stature

American journal of medical genetics. Part A, 2004-03, Vol.125A (2), p.186-190

2004

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Assignment of the Gene for Cystinuria (SLC3A1) to Human Chromosome 2p21 by Fluorescence in Situ Hybridization

Genomics (San Diego, Calif.), 1994-11, Vol.24 (2), p.413-414

1994

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A.01 Targeted analysis of whole exome sequencing and genotype-phenotype correlation in epileptic encephalopathies

Canadian journal of neurological sciences, 2016-06, Vol.43 (S2), p.S7-S7

2016

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Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment

Prenatal diagnosis, 1989-04, Vol.9 (4), p.255-269

1989

Volltextzugriff (PDF)

CHARACTERIZATION OF FOUR NOVEL EPITHELIAL OVARIAN CANCER CELL LINES

In vitro cellular & developmental biology. Animal, 2000, Vol.36 (6), p.357-361

2000

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838 Cellular immunodeficiency with elevated IgE and a new anomaly of chromosome

Journal of allergy and clinical immunology, 1996, Vol.97 (1), p.392-392

1996

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How can the genetic risks of embryo donation be minimized? Proposed guidelines of the French Federation of CECOS (Centre d'Etude et de Conservation des Oeufs et du Sperme)

Human reproduction (Oxford), 2004-08, Vol.19 (8), p.1685-1688

2004

Volltextzugriff (PDF)

CHARACTERIZATION OF FOUR NOVEL EPITHELIAL OVARIAN CANCER CELL LINES

In vitro cellular & developmental biology. Animal, 2000-06, Vol.36 (6), p.357-361

2000

Volltextzugriff (PDF)

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1

Journal of medical genetics, 2008-04, Vol.45 (4), p.239-243

2008

Volltextzugriff (PDF)

Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experience

Prenatal diagnosis, 1997-07, Vol.17 (7), p.681-685

1997

Volltextzugriff (PDF)

How can the genetic risks of embryo donation be minimized?

Human reproduction (Oxford), 2004-08, Vol.19 (8), p.1685-1688

2004

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Assignment of holocarboxylase synthetase gene (HLCS) to human chromosome band 21q22.1 and to mouse chromosome band 16C4 by in situ hybridization

Cytogenetics and cell genetics, 1997-01, Vol.76 (3-4), p.179

1997

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Assignment of renal-specific Na(+)-phosphate cotransporter gene Slc17a2 to mouse chromosome band 13B by in situ hybridization

Cytogenetics and cell genetics, 1997-01, Vol.77 (3-4), p.304

1997

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A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy

Human Methionine Synthase: cDNA Cloning and Identification of Mutations in Patients of the cblG Complementation Group of Folate/Cobalamin Disorders

The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression

Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy

Characterization of Four Novel Epithelial Ovarian Cancer Cell Lines

Uniparental disomy: can SNP array data be used for diagnosis?

P.057 Next-generation sequencing to determine a genetic cause of familial intracranial aneurysms

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Heart defects and other malformations in the Inuit in Canada: a baseline study

Translocation (Y;22) resulting in the loss of SHOX and isolated short stature

Assignment of the Gene for Cystinuria (SLC3A1) to Human Chromosome 2p21 by Fluorescence in Situ Hybridization

A.01 Targeted analysis of whole exome sequencing and genotype-phenotype correlation in epileptic encephalopathies

Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment

CHARACTERIZATION OF FOUR NOVEL EPITHELIAL OVARIAN CANCER CELL LINES

838 Cellular immunodeficiency with elevated IgE and a new anomaly of chromosome

How can the genetic risks of embryo donation be minimized? Proposed guidelines of the French Federation of CECOS (Centre d'Etude et de Conservation des Oeufs et du Sperme)

CHARACTERIZATION OF FOUR NOVEL EPITHELIAL OVARIAN CANCER CELL LINES

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1

Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experience

How can the genetic risks of embryo donation be minimized?

Assignment of holocarboxylase synthetase gene (HLCS) to human chromosome band 21q22.1 and to mouse chromosome band 16C4 by in situ hybridization

Assignment of renal-specific Na(+)-phosphate cotransporter gene Slc17a2 to mouse chromosome band 13B by in situ hybridization

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