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Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations

The European respiratory journal, 2011-01, Vol.37 (1), p.201-204

2011

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Novel founder mutation in French‐Canadian families with Naxos disease

Clinical genetics, 2017-10, Vol.92 (4), p.451-453

2017

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Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population

Clinical genetics, 2015-06, Vol.87 (6), p.536-542

2015

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Phenotypic variability among patients with hyperornithinaemia–hyperammonaemia–homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15

Journal of medical genetics, 2008-11, Vol.45 (11), p.759-764

2008

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Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

Molecular genetics and metabolism, 2009, Vol.96 (1), p.38-43

2009

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Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia

Neuropediatrics, 2008-02, Vol.39 (1), p.20

2008

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PREVALENCE OF BATRACHOCHYTRIUM DENDROBATIDIS IN AMERICAN BULLFROG AND SOUTHERN LEOPARD FROG LARVAE FROM WETLANDS ON THE SAVANNAH RIVER SITE, SOUTH CAROLINA

Journal of wildlife diseases, 2007-07, Vol.43 (3), p.450-460

2007

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Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3069-3082

2016

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On the false alarm probability for an overlapped FFT processor

IEEE transactions on aerospace and electronic systems, 1996-10, Vol.32 (4), p.1452-1456

Maranda, B.H.

1996

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Outcomes of patients treated through the Canadian Fabry disease initiative

Molecular genetics and metabolism, 2014-04, Vol.111 (4), p.499-506

2014

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LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

Journal of medical genetics, 2011-03, Vol.48 (3), p.183-189

2011

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Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

Genetics in medicine, 2013-06, Vol.15 (6), p.415-422

2013

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Intra-endosomal pH-sensitive Recruitment of the Arf-nucleotide Exchange Factor ARNO and Arf6 from Cytoplasm to Proximal Tubule Endosomes

The Journal of biological chemistry, 2001-05, Vol.276 (21), p.18540-18550

2001

Volltextzugriff (PDF)

C50 CYSTIC FIBROSIS AND UNCOMMON PEDIATRIC DISEASES: Primary Ciliary Dyskinesia In Children With Cri-Du-Chat Syndrome: A Genetic Connection

American journal of respiratory and critical care medicine, 2014-01, Vol.189, p.1

2014

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P15.05: Midtrimester diagnosis of Joubert syndrome by three‐dimensionnal evaluation of fetal vermis

Ultrasound in obstetrics & gynecology, 2010-10, Vol.36 (S1), p.224-224

2010

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Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation

Journal of medical genetics, 2011-12, Vol.48 (12), p.851-855

2011

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The effect of noise-only tracks on the performance of a combined detection and tracking algorithm

IEEE transactions on aerospace and electronic systems, 1997-01, Vol.33 (1), p.329-333

1997

Volltextzugriff (PDF)

Comparing arctan and maximum likelihood methods for bearing estimation

2012 Oceans, 2012, p.1-6

2012

Volltextzugriff (PDF)

Journal of Medical Genetics

Journal of medical genetics, 2011

2011

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Clinical and Cellular Manifestations of @@iOSTM1@-Related Infantile Osteopetrosis

Journal of bone and mineral research, 2008-02, Vol.23 (2), p.296-300

2008

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Detection and localization of weak targets by space-time integration

IEEE journal of oceanic engineering, 1991-04, Vol.16 (2), p.189-194

1991

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The optimal power law for the detection of a Gaussian burst in a background of Gaussian noise

IEEE transactions on information theory, 1991-01, Vol.37 (1), p.209-214

1991

Volltextzugriff (PDF)

Phenotypic variability among patients with hyperornithinaemia-hyperammonaemiahomocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15

Journal of medical genetics, 2008, Vol.45 (11), p.759-764

2008

Volltextzugriff (PDF)

Prevalence of Batrachochytrium dendorbatidis in American Bullfrog and Southern Leopard Frog Larvae From Wetlands on the Savannah River Site, South Carolina

Journal of wildlife diseases, 2007-07, Vol.43 (3), p.450-460

2007

Volltextzugriff (PDF)

The statistical accuracy of an arctangent bearing estimator

Oceans 2003. Celebrating the Past ... Teaming Toward the Future (IEEE Cat. No.03CH37492), 2003, Vol.4, p.2127-2132 Vol.4

Maranda, B.H.

2003

Volltextzugriff (PDF)

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Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations

Novel founder mutation in French‐Canadian families with Naxos disease

Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population

Phenotypic variability among patients with hyperornithinaemia–hyperammonaemia–homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia

PREVALENCE OF BATRACHOCHYTRIUM DENDROBATIDIS IN AMERICAN BULLFROG AND SOUTHERN LEOPARD FROG LARVAE FROM WETLANDS ON THE SAVANNAH RIVER SITE, SOUTH CAROLINA

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations

On the false alarm probability for an overlapped FFT processor

Outcomes of patients treated through the Canadian Fabry disease initiative

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

Intra-endosomal pH-sensitive Recruitment of the Arf-nucleotide Exchange Factor ARNO and Arf6 from Cytoplasm to Proximal Tubule Endosomes

C50 CYSTIC FIBROSIS AND UNCOMMON PEDIATRIC DISEASES: Primary Ciliary Dyskinesia In Children With Cri-Du-Chat Syndrome: A Genetic Connection

P15.05: Midtrimester diagnosis of Joubert syndrome by three‐dimensionnal evaluation of fetal vermis

Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation

The effect of noise-only tracks on the performance of a combined detection and tracking algorithm

Comparing arctan and maximum likelihood methods for bearing estimation

Journal of Medical Genetics

Clinical and Cellular Manifestations of @@iOSTM1@-Related Infantile Osteopetrosis

Detection and localization of weak targets by space-time integration

The optimal power law for the detection of a Gaussian burst in a background of Gaussian noise

Phenotypic variability among patients with hyperornithinaemia-hyperammonaemiahomocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15

Prevalence of Batrachochytrium dendorbatidis in American Bullfrog and Southern Leopard Frog Larvae From Wetlands on the Savannah River Site, South Carolina

The statistical accuracy of an arctangent bearing estimator

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