Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling

The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13)

Phenotypic Spectrum of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) in Denmark: A Case Series Characterizing the First Danish Families With the APC Promotor 1B Variant c.‐191T > C

Identification of a Novel DNAAF3 Variant in a 54‐Year‐Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD)

Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report.

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.

Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling

The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13)

Phenotypic Spectrum of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) in Denmark: A Case Series Characterizing the First Danish Families With the APC Promotor 1B Variant c.‐191T > C

Identification of a Novel DNAAF3 Variant in a 54‐Year‐Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD)

Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report.

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.