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Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

Annals of human genetics, 2012-09, Vol.76 (5), p.387-401

2012

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Clinical Significance and Regulation of ERK5 Expression and Function in Cancer

Cancers, 2022-01, Vol.14 (2), p.348

2022

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Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

American journal of human genetics, 2002-11, Vol.71 (5), p.1033-1043

2002

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Genetics of gastrointestinal atresias

European journal of medical genetics, 2014-08, Vol.57 (8), p.424-439

Celli, Jacopo

2014

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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Nature genetics, 2000-08, Vol.25 (4), p.423-426

2000

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The Human Serotonin Type 3 Receptor Gene (HTR3A‐E) Allelic Variant Database

Human mutation, 2017-02, Vol.38 (2), p.137-147

2017

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Feingold syndrome: Clinical review and genetic mapping

American journal of medical genetics, 2003-11, Vol.122A (4), p.294-300

2003

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The Human Serotonin Type 3 Receptor Gene ( HTR3A-E ) Allelic Variant Database: HUMAN MUTATION

Human mutation, 2017-02, Vol.38 (2), p.137-147

2017

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Curating gene variant databases (LSDBs): Toward a universal standard

Human mutation, 2012-02, Vol.33 (2), p.291-297

2012

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Mutation update for the PORCN gene

Human mutation, 2011-07, Vol.32 (7), p.723-728

2011

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Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

American journal of human genetics, 2010-07, Vol.87 (1), p.146-153

2010

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MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome

Nature genetics, 2005-05, Vol.37 (5), p.465-467

2005

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Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Cell, 1999-10, Vol.99 (2), p.143-153

1999

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p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

American journal of human genetics, 2001-09, Vol.69 (3), p.481-492

2001

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Familial Syndromic Esophageal Atresia Maps to 2p23-p24

American journal of human genetics, 2000-02, Vol.66 (2), p.436-444

2000

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Autonomic dysfunction in children with Hirschsprung's disease

Digestive diseases and sciences, 1999-05, Vol.44 (5), p.960-965

1999

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Insights into the Synthesis of Poly(ethylene 2,5-Furandicarboxylate) from 2,5-Furandicarboxylic Acid: Steps toward Environmental and Food Safety Excellence in Packaging Applications

Industrial & engineering chemistry research, 2019-05, Vol.58 (21), p.8955-8962

2019

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Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

Clinical Significance and Regulation of ERK5 Expression and Function in Cancer

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Genetics of gastrointestinal atresias

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

The Human Serotonin Type 3 Receptor Gene (HTR3A‐E) Allelic Variant Database

Feingold syndrome: Clinical review and genetic mapping

The Human Serotonin Type 3 Receptor Gene ( HTR3A-E ) Allelic Variant Database: HUMAN MUTATION

Curating gene variant databases (LSDBs): Toward a universal standard

Mutation update for the PORCN gene

Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Autonomic dysfunction in children with Hirschsprung's disease

Insights into the Synthesis of Poly(ethylene 2,5-Furandicarboxylate) from 2,5-Furandicarboxylic Acid: Steps toward Environmental and Food Safety Excellence in Packaging Applications

CT-Based Radiomics and Deep Learning for BRCA Mutation and Progression-Free Survival Prediction in Ovarian Cancer Using a Multicentric Dataset

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