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Case Reports in Genetics|January 23, 2015
Meningocele in a congolese female with beckwith-wiedemann phenotypeSébastien Mbuyi-Musanzayi, Toni Lubala Kasole, Aimé Lumaka, et al.Case Reports in Genetics|October 18, 2012
Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia SyndromeTanjung A Sumekar, Aneel A Ashrani, Tri I Winarni, et al.Case Reports in Genetics|October 18, 2012
Intrafamilial Variability of Early-Onset Diabetes due to an INS MutationSiri Fredheim, Jannet Svensson, Sven Pørksen, et al.Case Reports in Genetics|October 18, 2012
Clinical expression of an inherited unbalanced translocation in chromosome 6Bani Bandana Ganguly, Vijay Kadam, Nitin N KadamCase Reports in Genetics|October 18, 2012
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity SyndromeSheetal Sharda, Inusha Panigrahi, Ram Kumar MarwahaCase Reports in Genetics|October 18, 2012
Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomalyRachel O'Connor, Amel Al-Murrani, Salim Aftimos, et al.Case Reports in Genetics|October 18, 2012
Autism spectrum disorder in a girl with a de novo x;19 balanced translocationMarcelo Razera Baruffi, Deise Helena de Souza, Rosana Aparecida Bicudo da Silva, et al.Case Reports in Genetics|October 18, 2012
Detection of chromosome x;18 breakpoints and translocation of the xq22.3;18q23 regions resulting in variable fertility phenotypesAttila Szvetko, Nicole Martin, Chris Joy, et al.Case Reports in Genetics|October 29, 2025
RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same PositionLaura Keehan, Jennefer N Carter, Elijah Kravets, et al.Case Reports in Genetics|September 10, 2025
A Novel Case of NOTCH1 Variant and Nonimmune Hydrops Fetalis: A Case ReportGenevieve R Mazza, Alesandra R Rau, Madushka Y De ZoysaPageof 35