Original Research
Published on 14 Jul 2022
FGD1 Variant Associated With Aarskog–Scott Syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.888923
- 4,605 views
- 2 citations
Type at least 3 characters
406 articles
Case Report
Published on 12 Jul 2022
Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.912524
- 2,904 views
- 4 citations
Case Report
Published on 12 Jul 2022
Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.896177
- 3,298 views
- 4 citations
Original Research
Published on 07 Jul 2022
Clinical Feature, Treatment, and KCNH5 Mutations in Epilepsy
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.858008
- 5,194 views
- 8 citations
Case Report
Published on 04 Jul 2022
Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.914889
- 2,330 views
Correction
Published on 30 Jun 2022
Corrigendum: Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.961964
- 1,777 views
- 1 citation
Case Report
Published on 27 Jun 2022
Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification – Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.852903
- 4,433 views
- 9 citations
Case Report
Published on 23 Jun 2022
ARID2, a Rare Cause of Coffin–Siris Syndrome: A Clinical Description of Two Cases
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.911954
- 7,067 views
- 7 citations
Original Research
Published on 22 Jun 2022
Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.919996
- 6,507 views
- 5 citations
Original Research
Published on 22 Jun 2022
First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.900280
- 3,110 views
- 1 citation
General Commentary
Published on 21 Jun 2022
Commentary: Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.894611
- 1,015 views
Case Report
Published on 17 Jun 2022
Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.921323
- 5,051 views
- 3 citations
Case Report
Published on 17 Jun 2022
Galloway–Mowat Syndrome Type 3 Caused by OSGEP Gene Variants: A Case Report and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.899991
- 4,304 views
- 7 citations
Original Research
Published on 15 Jun 2022
Complex Inheritance of Rare Missense Variants in PAK2, TAP2, and PLCL1 Genes in a Consanguineous Arab Family With Multiple Autoimmune Diseases Including Celiac Disease
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.895298
- 2,682 views
- 4 citations
Case Report
Published on 09 Jun 2022
Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.897636
- 4,623 views
- 5 citations
Original Research
Published on 06 Jun 2022
Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.918130
- 4,089 views
- 3 citations