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Case Reports in Genetics|December 25, 2019
Corrigendum to "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features"Jacquelyn D Riley, Catherine M Stefaniuk, Francine Erenberg, et al.Case Reports in Genetics|October 8, 2020
A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis PhenotypeEleni Agakidou, Charalampos Agakidis, Marios Kambouris, et al.Case Reports in Genetics|December 1, 2018
Gastrointestinal Malignancy Presenting with a Virchow's Node in a Patient with Rothmund-Thomson SyndromeKara Nadeau, Michele BruleCase Reports in Genetics|March 18, 2020
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein-Taybi Syndrome Phenotype: A Case Report of a Saudi BoyMohammad M Al-Qattan, Zuhair A Rahbeeni, Zuhair N Al-Hassnan, et al.Case Reports in Genetics|September 13, 2014
Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma SyndromeDaryl Graham, Megan Gooch, Zhan Ye, et al.Case Reports in Genetics|July 23, 2014
Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan geneGulden Diniz, Hulya Tosun Yildirim, Sarenur Gokben, et al.Case Reports in Genetics|August 19, 2017
An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and HepatomegalyJ Carter, H Brittain, D Morrogh, et al.Case Reports in Genetics|September 21, 2017
What Drives Embryo Development? Chromosomal Normality or Mitochondria?A Bayram, I Elkhatib, A Arnanz, et al.Case Reports in Genetics|March 5, 2016
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac AnomaliesShirley Lo-A-Njoe, Lars T van der Veken, Clementien Vermont, et al.Case Reports in Genetics|March 5, 2016
Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative CasesHo-Ming LukPageof 34