Original Research
Published on 30 Apr 2018
Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2018.00106
- 5,222 views
- 8 citations
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385 articles
Articles
Case Report
Published on 25 Apr 2018
De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2018.00116
- 4,048 views
- 2 citations
Original Research
Published on 10 Jan 2018
Skin Biomarkers for Cystic Fibrosis: A Potential Non-Invasive Approach for Patient Screening
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2017.00290
- 7,182 views
- 15 citations
Original Research
Published on 12 Oct 2017
Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2017.00219
- 7,043 views
- 30 citations
Original Research
Published on 05 Sep 2017
Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2017.00194
- 3,314 views
- 4 citations
Case Report
Published on 09 Aug 2017
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2017.00169
- 6,960 views
- 13 citations
Case Report
Published on 22 May 2017
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2017.00113
- 5,974 views
- 12 citations
Case Report
Published on 21 Mar 2017
A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2017.00048
- 3,412 views
- 5 citations
Clinical Case Study
Published on 09 Oct 2015
A Case of New Familiar Genetic Variant of Autosomal Dominant Polycystic Kidney Disease-2: A Case Study
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2015.00082
- 4,738 views
- 4 citations
Original Research
Published on 03 Aug 2015
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2015.00067
- 23,850 views
- 165 citations
Clinical Case Study
Published on 16 Jun 2015
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2015.00051
- 17,584 views
- 17 citations
Original Research
Published on 05 May 2015
Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2015.00034
- 6,113 views
- 23 citations
Review
Published on 11 Feb 2015
Review of Literature: Genes Related to Postaxial Polydactyly
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2015.00008
- 12,412 views
- 27 citations
Mini Review
Published on 16 Jun 2014
Birth Defects Registries in the Genomics Era: Challenges and Opportunities for Developing Countries
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2014.00060
- 7,775 views
- 9 citations
Mini Review
Published on 03 Mar 2014
From Genes to Health – Challenges and Opportunities
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2014.00012
- 6,588 views
- 3 citations
Specialty Grand Challenge
Published on 20 Nov 2013
Specialty Grand Challenge – Genetic Disorders
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2013.00036
- 3,043 views