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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

American journal of human genetics, 2015-02, Vol.96 (2), p.275-282

2015

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Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

Annals of neurology, 2017-10, Vol.82 (4), p.562-577

2017

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Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

Human mutation, 2009-03, Vol.30 (3), p.300-307

2009

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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Nature genetics, 2012-10, Vol.44 (10), p.1152-1155

2012

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Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1

Human mutation, 2016-11, Vol.37 (11), p.1190-1201

2016

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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Human molecular genetics, 2014-11, Vol.23 (22), p.5940-5949

2014

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Structural Basis for Catalytic Activity and Enzyme Polymerization of Phospholipid Hydroperoxide Glutathione Peroxidase-4 (GPx4)

Biochemistry (Easton), 2007-08, Vol.46 (31), p.9041-9049

2007

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Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

Nature genetics, 2009-02, Vol.41 (2), p.234-239

2009

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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

American journal of human genetics, 2016-07, Vol.99 (1), p.236-245

2016

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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Nature genetics, 2003-08, Vol.34 (4), p.379-381

2003

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Loss of Chondroitin 6-O-Sulfotransferase-1 Function Results in Severe Human Chondrodysplasia with Progressive Spinal Involvement

Proceedings of the National Academy of Sciences - PNAS, 2004-07, Vol.101 (27), p.10155-10160

2004

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Heterozygous mutations in ANKH , the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Nature genetics, 2001-05, Vol.28 (1), p.37-41

2001

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Congenital Glutamine Deficiency with Glutamine Synthetase Mutations

The New England journal of medicine, 2005-11, Vol.353 (18), p.1926-1933

2005

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Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

American journal of human genetics, 2007-05, Vol.80 (5), p.971-981

2007

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Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene

PloS one, 2007-12, Vol.2 (12), p.e1362-e1362

2007

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Investigation of citrullinemia type I variants by in vitro expression studies

Human mutation, 2008-10, Vol.29 (10), p.1222-1227

2008

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Calorimetry: Fundamentals, Instrumentation and Applications

Stefan Mathias Sarge, Günther W. H. Höhne, Wolfgang Hemminger

2, 2014

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Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

Human genetics, 2015-07, Vol.134 (7), p.691-704

2015

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CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

Human molecular genetics, 2013-12, Vol.22 (25), p.5199-5214

2013

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The structure of the anti-c-myc antibody 9E10 Fab fragment/epitope peptide complex reveals a novel binding mode dominated by the heavy chain hypervariable loops

Proteins, structure, function, and bioinformatics, 2008-11, Vol.73 (3), p.552-565

2008

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Molecular Basis for the Binding Promiscuity of an Anti-p24 (HIV-1) Monoclonal Antibody

Cell, 1997-12, Vol.91 (6), p.799-809

1997

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Engineering a circularly permuted GFP scaffold for peptide presentation

Journal of molecular recognition, 2007-09, Vol.20 (5), p.367-378

2007

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Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.870-874

2010

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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Structural Basis for Catalytic Activity and Enzyme Polymerization of Phospholipid Hydroperoxide Glutathione Peroxidase-4 (GPx4)

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Loss of Chondroitin 6-O-Sulfotransferase-1 Function Results in Severe Human Chondrodysplasia with Progressive Spinal Involvement

Heterozygous mutations in ANKH , the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Congenital Glutamine Deficiency with Glutamine Synthetase Mutations

Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene

Investigation of citrullinemia type I variants by in vitro expression studies

Calorimetry: Fundamentals, Instrumentation and Applications

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

The structure of the anti-c-myc antibody 9E10 Fab fragment/epitope peptide complex reveals a novel binding mode dominated by the heavy chain hypervariable loops

Molecular Basis for the Binding Promiscuity of an Anti-p24 (HIV-1) Monoclonal Antibody

Engineering a circularly permuted GFP scaffold for peptide presentation

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

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